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1.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-760857

RESUMO

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.


Assuntos
Lesão Renal Aguda , Adolescente , Encéfalo , Cálcio , Cobre , Genes Recessivos , Síndrome de Gitelman , Hepatite , Degeneração Hepatolenticular , Humanos , Concentração de Íons de Hidrogênio , Hipo-Hidrose , Deficiência Intelectual , Rim , Fígado , Magnésio , Masculino , Metabolismo , Pancreatite , Potássio , Sensação
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-775765

RESUMO

OBJECTIVE@#To carry out mutation analysis for a Chinese family affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).@*METHODS@#Whole exome sequencing (WES) was used to screen potential mutations within genomic DNA extracted from the proband. Suspected mutation was validated by combining clinical data and results of Sanger sequencing.@*RESULTS@#A homozygous deletional mutation c.3665_3675delGTGCTGTCTTA (p.S1222fs) was found in the proband, for which her parents were both heterozygous carriers.@*CONCLUSION@#WES is capable of detecting mutation underlying this disorder and facilitating genetic counseling and prenatal diagnosis for the affected family. A novel pathogenic mutation of the SACS gene was discovered.


Assuntos
Feminino , Genes Recessivos , Proteínas de Choque Térmico , Genética , Humanos , Espasticidade Muscular , Mutação , Ataxias Espinocerebelares
3.
Rev. ecuat. pediatr ; 18(2): 11-13, diciembre 2017.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-996585

RESUMO

El hipotiroidismo congénito es la enfermedad endócrina más frecuente en neonatología y suele transcurrir sin sintomatología clara en ésta etapa de la vida. Es la principal causa de retardo mental tratable cuyo pronóstico radica en el diagnóstico oportuno y tratamiento precoz. El propósito de este artículo es evidenciar cómo situaciones no habituales del comportamiento clínico que despiertan sospecha y el empleo del tamizaje neonatal hacen herramientas eficaces para la detección temprana de ésta patología. De acuerdo con la revisión bibliográfica; además, en este caso, presentamos una situación que debe profundizar el análisis de la etiología ya que la dishormonogénesis es un tipo de hipotiroidismo primario congénito caracterizado por un déficit permanente de hormonas tiroideas que se acompaña de bocio, tiene una transmisión autosómica recesiva y puede requerir confirmación mediante pruebas genéticas.


Congenital hypothyroidism is the most frequent endocrine disease in neonatology and usually occurs without clear symptoms in this stage of life. It is the main cause of treatable mental retardation whose prognosis lies in the timely diagnosis and early initiation of treatment. The purpose of this article is to show that unusual situations of clinical behavior that arouse suspicion and the use of neonatal screening make effective tools for the early detection of this pathology. According to the bibliographic review. Furthermore, in this case, we present a situation that should deepen the analysis of the etiology since the dyshormonogenesis is a type of congenital primary hypothyroidism characterized by a permanent deficit of thyroid hormones that is usually accompanied by goiter, has an autosomal recessive transmission and can require confirmation through genetic tests.


Assuntos
Humanos , Masculino , Recém-Nascido , Triagem Neonatal , Hipotireoidismo Congênito , Diagnóstico Precoce , Técnicas de Laboratório Clínico , Genes Recessivos , Bócio
4.
Rev. ecuat. pediatr ; 18(2): 21-23, diciembre 2017.
Artigo em Espanhol | LILACS (Américas) | ID: biblio-996595

RESUMO

Los síndromes de deficiencia de adhesión leucocitaria (leukocyte adhesion deficiency [LAD por sus siglas en inglés]) engloban un conjunto de patologías causadas por defectos en el reconocimiento, la adhesión y la migración de los leucocitos mieloides hacia los lugares de invasión microbiana, lo que provoca la falta de defensa innata del huésped frente a bacterias, hongos u otros microrganismos. Se identifica en lactantes por antecedentes como la demora en la caída del cordón umbilical cuando los niños empiezan a tener complicaciones infecciosas. No es común identificar LAD en niños recién nacidos, posiblemente la presencia de la fistula ano rectal y el tratamiento quirúrgico aceleran la presentación clínica en el paciente facilitando así su diagnóstico. Por ser una enfermedad autosómica recesiva y teniendo el importante antecedente de los fallecimientos en sus dos hermanos anteriores a mayor edad. Poder contar con mecanismos de diagnóstico efectivos facilitan el llegar a una conclusión pronta, mejor manejo en general mejorando las expectativas de vida de los pacientes con este tipo de alteraciones hematológicas.


The syndromes of leukocyte adhesion deficiency (LAD) encompass a group of pathologies caused by defects in the recognition, adhesion and migration of myeloid leukocytes to microbial invasion sites. Causes the lack of innate host defense against bacteria, fungi or other microorganisms. It is identified in infants due to antecedents such as the delay in the fall of the umbilical cord when children begin to have infectious complications. It is not common to identify HDL in newborn children, possibly the presence of anus rectal fistula and surgical treatment accelerate the clinical presentation in the patient, thus facilitating its diagnosis. For being an autosomal recessive disease and having the important antecedent of the deaths in his two older brothers at older age. Being able to count on effective diagnostic mechanisms makes it easier to arrive at a quick conclusion better management in general, improving the life expectancy of patients with this type of hematological alterations.


Assuntos
Humanos , Masculino , Recém-Nascido , Integrinas , Síndrome da Aderência Leucocítica Deficitária , Genes Recessivos , Cordão Umbilical , Fístula Retal
5.
Pesqui. vet. bras ; 36(10): 1021-1024, out. 2016.
Artigo em Português | LILACS (Américas), VETINDEX | ID: biblio-841996

RESUMO

O objetivo do trabalho foi identificar a presença no Brasil do gene mutante L2HGDH em cães da raça Staffordshire Bull Terrier (SBT). Para tanto foi feito o teste genético em 76 cães provenientes de diferentes regiões do Brasil, no período de 2008 a 2015, sendo encontrados 55 animais (72,37%) livres do gene mutante L2-HGDH ou homozigotos dominantes, e 21(27,63%) portadores do gene mutante ou heterozigotos. Não foi encontrado nenhum animal homozigoto recessivo (afetado), porém pode-se observar que o gene circula no Brasil e que cães afetados podem aparecer.(AU)


The aim of this study was to identify the presence of a mutation in the L2-hydroxyglutarate dehydrogenase (L2-HGDH) gene in Staffordshire bull terriers in Brazil. Genetic testing was done in 76 dogs from different regions of the country, from 2008 to 2015. Fifty-five dogs (72.37%) were free of the mutant gene L2HGDH or homozygous-dominant, and 21 (27.63%) were carriers for the mutant gene or heterozygous. No homozygous recessive dogs (affected) were found, however, it is worth noting that the gene circulates in Brazil and that affected dogs can appear.(AU)


Assuntos
Animais , Cães , Sistema Nervoso Central/patologia , Anormalidades Congênitas/veterinária , Genes Recessivos , Triagem de Portadores Genéticos , Fenômenos Genéticos , Hereditariedade , Doenças do Sistema Nervoso/veterinária
6.
Singapore medical journal ; : e110-1, 2015.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-337130

RESUMO

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.


Assuntos
Adulto , Síndrome de Ellis-Van Creveld , Diagnóstico , Genética , Cirurgia Geral , Genes Recessivos , Deformidades da Mão , Humanos , Expectativa de Vida , Masculino , Insuficiência da Valva Mitral , Cirurgia Geral , Prognóstico , Qualidade de Vida , Anormalidades Dentárias
7.
Chinese Journal of Pediatrics ; (12): 114-118, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-293859

RESUMO

<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutation of Chinese children with Alport syndrome(AS).</p><p><b>METHOD</b>From May 2011 to May 2014, clinical and pathological information gathered from 25 patients was retrospectively analyzed. COL4A5, COL4A4 and COL4A3 genes were analyzed using next-generation sequencing in these patients, and gene mutations of related family members were identified by Sanger method.</p><p><b>RESULT</b>Of these 25 cases, 19(76%) had X-linked Alport syndromes (XL-AS), 6 had autosomal recessive Alport syndromes (AR-AS). Twenty five patients had an onset of hematuria and proteinuria and in 8 cases the disease was induced by upper respiratory tract infections. Hearing loss was present in 2 of 25 (8%) cases and ocular lesions in 1 of 25 (4%). Renal pathology showed that 16 of them had minimal change disease (MCD), 8 mesangial proliferative glomerulonephritis (MsPNG), 1 focal segmental glomerulo-sclerosis (FSGS). Extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 2 (8%) of 25 patients. Twenty one of 25 patients (84%) showed abnormal renal α-chain distribution. COL4A5, COL4A4 and COL4A3 genes of 25 patients (23 families) were analyzed and 24 pathogenic mutations were identified: 18 in COL4A5, 1 in COL4A3 and 5 in COL4A4. It was observed that 13 patients inherited the mutation from the mother, 3 patients inherited from the father, 2 patients inherited 1 mutation from the mother and another mutation from the father, and 7 patients carried the novel mutations.</p><p><b>CONCLUSION</b>XL is the main inherited type in AS. Most of patients showed MCD and MsPNG in renal biopsy. This research examined 24 mutations and 16 mutations were not reported previously.</p>


Assuntos
Criança , Surdez , Genes Recessivos , Genótipo , Hematúria , Humanos , Rim , Mutação , Nefrite Hereditária , Genética , Patologia , Linhagem , Fenótipo
8.
Yonsei Medical Journal ; : 993-997, 2015.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-150486

RESUMO

PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients. MATERIALS AND METHODS: In this study, age at the onset of symptoms, the score of severity assessed by impairment of activities of daily living milestones, and rate of disease progression, and their correlations with the number of CAG repeats in the androgen receptor (AR) gene, as well as possible correlations among clinical characteristics, were analyzed in 40 SBMA patients. RESULTS: The median ages at onset and at diagnosis were 44.5 and 52.5 years, respectively, and median interval between onset and diagnosis and median rate of disease progression were 5.0 years and 0.23 score/year, respectively. The median number of CAG repeats in the AR gene was 44 and the number of CAG repeats showed a significant inverse correlation with the age at onset of symptoms (r=-0.407, p=0.009). In addition, patients with early symptom onset had slower rate of disease progression. CONCLUSION: As a report with the largest and recent Korean cohort, this study demonstrates clinical features of Korean patients with SBMA and reaffirms the inverse correlation between the age at disease onset and the number of CAG repeats. Interestingly, this study shows a possibility that the rate of disease progression may be influenced by the age at onset of symptoms.


Assuntos
Atividades Cotidianas , Adulto , Idade de Início , Grupo com Ancestrais do Continente Asiático/genética , Atrofia Bulboespinal Ligada ao X/genética , Progressão da Doença , Feminino , Genes Recessivos , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/fisiopatologia , Atrofia Muscular Espinal , Transtornos Musculares Atróficos/genética , Fenótipo , Receptores Androgênicos/genética , República da Coreia , Repetições de Trinucleotídeos/genética
9.
Biomédica (Bogotá) ; 34(2): 171-179, abr.-jun. 2014. tab
Artigo em Espanhol | LILACS (Américas) | ID: lil-712401

RESUMO

Las poblaciones humanas obedecen a los mismos supuestos evolutivos que el resto de los organismos, aunque mezclados con elementos sociales y culturales que pueden promover la expresión de ciertas enfermedades en grupos étnicos específicos, causadas principalmente por la frecuente endogamia. En este trabajo se analiza el principio de Hardy-Weinberg desde un enfoque médico, social y biológico, para entender los procesos evolutivos que dan lugar a las enfermedades autosómicas recesivas. A manera de conclusión se puede señalar que la incidencia de estas enfermedades está inversamente relacionada con los niveles de la variabilidad genética en las poblaciones, variabilidad que depende de eventos de colonización, recolonización y migración, así como de convenciones sociales como el racismo, la estratificación social y la segregación.


Human populations follow the same evolutionary principles as other organisms, although mixed with social and cultural elements, which can result in a high prevalence of certain diseases within specific ethnic groups. In this work, the Hardy-Weinberg principle is analyzed from a medical, social and biological viewpoint to understand the evolutionary processes of autosomal recessive diseases. It can be concluded that the incidence of these diseases is inversely related to the levels of genetic variability within populations, which depends on colonization, recolonization and migration events, as well as on social conventions such as racism, social stratification and segregation.


Assuntos
Humanos , Genética Médica/métodos , Genética Populacional/métodos , Evolução Biológica , Cultura , Frequência do Gene , Interação Gene-Ambiente , Genes Recessivos , Deriva Genética , Predisposição Genética para Doença , Doenças Genéticas Inatas/etnologia , Doenças Genéticas Inatas/genética , Casamento , Modelos Genéticos , Fenótipo , Prevalência , Seleção Genética , Comportamento Social
10.
Arq. neuropsiquiatr ; 72(3): 219-226, 03/2014. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: lil-704061

RESUMO

Hereditary spastic paraplegia (HSP) is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.


Paraplegias espásticas hereditárias (PEH) constituem um grupo de desordens geneticamente determinadas caracterizadas por espasticidade e paraparesia de progressão insidiosa. Paraplegia espástica aparentemente esporádica de início no adulto constitui problema frequente na prática neurológica. Evidências recentes sugerem que uma proporção significativa destes casos é geneticamente determinada. O grupo das PEH é dividido clinicamente em formas puras e complicadas de acordo com a concomitância de outras manifestações clinicas e neurológicas. Até o momento 60 tipos genéticos foram identificados. Todos os modos de herança monogênica já foram descritos: autossômica dominante, autossômica recessiva, ligada ao X e mitocondrial. Avanços recentes indicam que alterações do transporte axonal estão implicadas na degeneração dos longos axônios motores no sistema nervoso central na PEH. Nesta revisão abordamos recentes avanços na área com ênfase nos aspectos clínicos chave que ajudam o neurologista geral no diagnóstico e manejo correto deste grupo de doenças.


Assuntos
Adulto , Humanos , Paraplegia Espástica Hereditária/genética , Genes Dominantes/genética , Genes Recessivos/genética , Doenças Genéticas Ligadas ao Cromossomo X/classificação , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Imagem por Ressonância Magnética , Mutação , Paraplegia Espástica Hereditária/classificação , Paraplegia Espástica Hereditária/diagnóstico
11.
CoDAS ; 26(1): 3-9, 02/2014. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: lil-705323

RESUMO

Purpose: To evaluate the cochlear function of parents of individuals with autosomal recessive gene Gap Junction Protein Beta-2 hearing loss by ultra-high frequencies distortion-product otoacoustic emissions (DPOAEs), compared with responses of a control group matched for age and gender. Methods: We studied 56 subjects aged from 20 to 58 years, divided into two groups. The study group comprised 28 parents of hearing-impaired patients due to autosomal recessive inheritance, 14 females aged 20.0-55.0 years (mean 32.8 years) and 14 males aged 20.0-58.0 years (mean 35.2 years). Control group was composed of normal hearing individuals, 14 males and 14 females age-matched to the study group. The subjects underwent tests for audiometry, tympanometry, and DPOAE in the frequency range of 9.000-16.000 Hz. Results: We found 64.3% of normal results of DPOAE in the study group compared to 91.1% in the control. There were significant differences between groups in the ears and DPOAE responses, and the mean level of response was in 10 dBNPS in study group and 14 dBNPS in the control. The Pearson's correlation between age and DPOAE in ultra-high frequencies showed no statistical significance. Conclusion: DPOAE at ultra-high frequencies were able to identify individuals from both groups, suggesting that heterozygous individuals for the Gap Junction Protein Beta-2 gene mutation may have damage to the cochlear function before clinical manifestation in audiometry. .


Objetivo: Avaliar a função coclear em pais de indivíduos com deficiência auditiva de herança autossômica recessiva do gene Gap Junction Bet-2 Protein por meio das emissões otoacústicas evocadas por produto de distorção (EOA-PD) em frequências ultra-altas, comparando com as respostas de um grupo controle, pareadas por gênero e idade. Métodos: Foram avaliados 56 indivíduos, entre 20 a 58 anos de idade, distribuídos em dois grupos. O grupo estudo foi constituído por 28 pais de deficientes auditivos decorrentes de herança autossômica recessiva, sendo 14 mulheres com idade entre 20,0 a 55,0 anos (média 32,8) e 14 homens de 20,0 a 58,0 anos (média 35,2), enquanto o grupo controle era formado por indivíduos sem queixa auditiva, composto por 14 homens e 14 mulheres, com idades pareadas ao grupo estudo. Os indivíduos foram submetidos aos exames de audiometria tonal, imitanciometria e EOA-PD na faixa de frequência de 9.000 a 16.000 Hz. Resultados: Foram observados 64,3% de resultados normais das EOA-PD no grupo estudo em comparação a 91,1% no controle. Houve diferença estatisticamente significante entre as orelhas e grupos nas respostas de EOA-PD, sendo que a média do nível de resposta foi 10 dBNPS no grupo estudo e 14 dBNPS no controle. A correlação de Pearson entre a idade e as EOA-PD em frequências ultra-altas não demonstrou correlação significativa. Conclusão: As EOA-PD em frequências ultra-altas foram capazes de distinguir os indivíduos de ambos os grupos, sugerindo que indivíduos heterozigotos para a mutação do gene GJB2 podem apresentar dano na função coclear antes da manifestação clínica na avaliação audiológica convencional. .


Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Genes Recessivos , Perda Auditiva de Alta Frequência/genética , Emissões Otoacústicas Espontâneas/genética , Limiar Auditivo , Estudos de Casos e Controles , Heterozigoto , Perda Auditiva de Alta Frequência/diagnóstico , Mutação/genética , Emissões Otoacústicas Espontâneas/fisiologia , Pais
12.
Indian J Hum Genet ; 2014 Jan-Mar ;20 (1): 92-95
Artigo em Inglês | IMSEAR (Sudeste Asiático), GHL | ID: sea-156643

RESUMO

Split‑hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India.


Assuntos
Adolescente , Adulto , Criança , Família/história , Feminino , Genes Dominantes/genética , Genes Recessivos/genética , Humanos , Índia , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Deformidades Congênitas dos Membros/genética , Masculino
13.
JPAD-Journal of Pakistan Association of Dermatologists. 2014; 24 (1): 89-92
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-157649

RESUMO

Lipoid proteinosis is a rare autosomal recessive disorder with variable phenotype, caused by defect in extracellular matrix protein-1 and is characterized by deposition of periodic acid-Schiff-positive, diastase resistant material in skin, mucous membrane and internal organs. There are only few reports regarding lipoid proteinosis in literature and in this part of the world. Here, we report a case of lipoid proteinosis in a 29-year-old male with positive family history and widespread distribution involving skin and internal organs. Histopathological finding was consistent with clinical diagnosis of lipoid proteinosis


Assuntos
Humanos , Masculino , Proteinose Lipoide de Urbach e Wiethe , Proteínas da Matriz Extracelular/genética , Membrana Basal/ultraestrutura , Genes Recessivos , Pele/patologia , Reação do Ácido Periódico de Schiff
14.
Acta odontol. venez ; 52(1)2014. ilus
Artigo em Espanhol | LILACS (Américas) | ID: lil-777807

RESUMO

El Síndrome de Ellis Van Creveld es poco frecuente, hereditario de carácter autosómico recesivo no habiendo predilección por sexo. Se caracteriza por acortamiento acromesomélico, polidactilia postaxial bilateral de manos, condrodisplasia de huesos largos y displasia ectodérmica de uñas y dientes. El conocimiento de la misma es imperativo para un diagnóstico temprano y manejo multidisciplinario oportuno que permita una mejor calidad de vida de estos pacientes.


The Ellis Van Creveld syndrome is rare, hereditary autosomal recessive, without no sex predilection. It is characterized by short-limbed dwarfism, bilateral postaxial hand polydactyl, chondrodysplasia of long bones and ectodermic dysplasia affecting fingernails and teeth. The knowledge of it is essential for early diagnosis and appropriate multidisciplinary management that allows a better quality of life for these patients.


Assuntos
Humanos , Feminino , Pré-Escolar , Criança , Nanismo/complicações , Nanismo/fisiopatologia , Genes Recessivos/genética , Síndrome de Ellis-Van Creveld/fisiopatologia , Síndrome de Ellis-Van Creveld/genética , Doenças Genéticas Inatas , Odontopediatria
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-291728

RESUMO

<p><b>OBJECTIVE</b>To analyze mutations in a pedigree of familial hemophagocytic lymphohistiocytosis (FHLH) from Sichuan and provide genetic counseling for the family.</p><p><b>METHODS</b>Clinical data of a case with FHLH diagnosed at West China Second Hospital was retrospectively analyzed. Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Eight candidate genes for primary HLH were amplified with PCR and analyzed by direct sequencing.</p><p><b>RESULTS</b>The proband was diagnosed as HLH based on clinical manifestations of recurrent fever for 2 months, hepatosplenomegaly, lymphadenopathy, pancytopenia, hyperferritinemia, and decreased fibrinogen and hemophagocytosis in bone marrow. Genetic testing for primary HLH was carried out considering the relapse of illness after hormone therapy for 8 weeks and the family history. The results of gene sequencing showed that the proband has carried compound heterozygous mutations in PRF1 gene (c.1349C> T in exon 3 and c.445G> A in exon 2). His father has carried a heterozygous mutation (c.445G> A in exon 2) and nonsense mutation (c.900C> T in exon 3), and his mother carried a heterozygous mutation (c.1349C> T in exon 3). Both c.1349C> T and c.445G> A have been previously reported as pathogenic mutations.</p><p><b>CONCLUSION</b>The family has been diagnosed as familial HLH type 2 based on clinical and laboratory examinations and molecular genetic testing. Gene sequencing has indicated that is was a recessive type familial HLH.</p>


Assuntos
Sequência de Bases , Análise Mutacional de DNA , Éxons , Genética , Saúde da Família , Feminino , Genes Recessivos , Genética , Predisposição Genética para Doença , Genética , Heterozigoto , Humanos , Linfo-Histiocitose Hemofagocítica , Diagnóstico , Genética , Masculino , Mutação , Linhagem , Perforina , Genética , Fenótipo , Reação em Cadeia da Polimerase , Estudos Retrospectivos
16.
Indian J Hum Genet ; 2013 Oct-Dec ;19 (4): 494-511
Artigo em Inglês | IMSEAR (Sudeste Asiático), GHL | ID: sea-156623

RESUMO

PURPOSE: This study aims to assess a meta‑analysis of the association of X‑ray repair cross‑complementing group 1 (XRCC1) polymorphisms with the risk of various non‑carcinogenic diseases in different population. MATERIALS AND METHODS: This meta‑analysis was performed by critically reviewing reveals 38 studies involving 10043 cases and 11037 controls. Among all the eligible studies, 14 focused on Arg194Trp polymorphism, 33 described the Arg399Gln and three articles investigated on Arg280His. Populations were divided into three different ethnic subgroups include Caucasians, Asians and other (Turkish and Iranian). RESULTS: Pooled results showed no correlation between Arg194Trp and non‑carcinogenic disease. There was only weak relation in the recessive (odds ratio [OR] =1.11, 95% confidence interval [CI]: 0.86‑1.44) model in Asian population and dominant (OR = 1.04, 95% CI: 0.66‑1.63) model of other populations. In Arg399Gln polymorphism, there was no relation with diseases of interest generally. In the pooled analysis, there were weak relation in the dominant (OR = 1.08, 95% CI: 0.86‑1.35) model of Asian population and quite well‑correlation with recessive (OR = 1.49, 95% CI: 1.19‑1.88), dominant (OR = 1.23, 95% CI: 0.94‑1.62), and additive (OR = 1.23, 95% CI: 0.94‑1.62) models of other subgroup. For Arg280His, there was a weak relation only in the dominant model (OR = 1.06, 95% CI: 0.74‑1.51). CONCLUSION: The present meta‑analysis correspondingly shows that Arg399Gln variant to be associated with increased non‑carcinogenic diseases risk through dominant and recessive modes among Iranian and Turkish population. It also suggests a trend of dominant and recessive effect of Arg280His variant in all population and its possible protective effect on non‑carcinogenic diseases.


Assuntos
Doença/genética , Reparo do DNA/genética , Proteínas de Ligação a DNA/genética , Grupos Étnicos , Genes Dominantes , Genes Recessivos , Predisposição Genética para Doença , Humanos , Metanálise como Assunto , Neoplasias/genética , Razão de Chances , Polimorfismo Genético , Risco
17.
Oman Medical Journal. 2013; 28 (1): 53-55
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-146732

RESUMO

Infantile Systemic Hyalinosis [ISH] [OMIM 236490] is a rare, progressive and fatal autosomal recessive disorder characterized by multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, diarrhea with protein losing enteropathy, and frequent infections. There is diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle and endocrine glands. It is caused by mutations in the ANTXR2 [also known as CMG2] gene, which encodes a transmembranous protein involved in endothelial development and basement membrane-extracellular matrix assembly. We describe a child with classical features of ISH presenting in infancy with severe chronic debilitating pain and progressive joint contractures. The diagnosis was confirmed by molecular DNA sequencing of ANTXR2 gene which revealed a novel homozygous mutation not previously reported; 79 bp deletion of the entire exon 11 [c867_945del, p.E289DfsX22]. Although this is the first reported case of ISH in Oman, we believe that the disease is under-diagnosed since children affected with this lethal disease pass away early in infancy prior to establishing a final diagnosis


Assuntos
Humanos , Feminino , Mutação , Genes Recessivos , Transtornos Cromossômicos , Hipertrofia Gengival , Doenças Ósseas Metabólicas , Contratura , Insuficiência de Crescimento , Diarreia , Enteropatias Perdedoras de Proteínas , Receptores de Peptídeos
18.
Chinese Journal of Pediatrics ; (12): 679-683, 2013.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-275643

RESUMO

<p><b>OBJECTIVE</b>To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children.</p><p><b>METHOD</b>Clinical manifestations, laboratory examinations, image studies, and genetic testing of two cases with SDS were presented, analyzed, and discussed; 311 SDS cases from the related literature since 2004 were reviewed.</p><p><b>RESULT</b>(1) The two cases both presented with characteristic exocrine pancreatic insufficiency evidenced by abnormal pancreas on imaging and growth retardation, persistent or intermittent neutropenia (<1500×10(6)/L) and/or anemia, and skeletal abnormalities. Analysis of the SBDS gene revealed the same compound heterozygous genotype (c.183_184TA > CT, c.258+2T > C) for both subjects. This genotype is the result of the inheritance of abnormal alleles from both healthy parents. (2) Among 311 cases, 75 cases having complete clinical data were characterized by exocrine pancreatic dysfunction (61/75; 81.3%), hematologic abnormalities with single- or multi-lineage cytopenia (64/75; 85.3%), and bone abnormalities (47/75; 62.7%). c.183_184TA > CT, c.258+2T > C, and c. [ 183_184TA > CT; 258+2T > C] are the major types of SBDS gene mutation(85/138;61.6%).</p><p><b>CONCLUSION</b>SDS is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenia, and bone abnormalities. The diagnosis of SDS relies on a combination of clinical features and gene-based tests. The SDS patients need long term follow-up and management.</p>


Assuntos
Doenças da Medula Óssea , Diagnóstico , Genética , Criança , Análise Mutacional de DNA , Insuficiência Pancreática Exócrina , Diagnóstico , Genética , Éxons , Genes Recessivos , Heterozigoto , Humanos , Lactente , Lipomatose , Diagnóstico , Genética , Masculino , Mutação , Neutropenia , Proteínas , Genética
19.
Saudi Journal of Gastroenterology [The]. 2012; 18 (4): 285-289
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-132552

RESUMO

Mitochondrial DNA depletion syndromes [MDSs] are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the clinical features, biochemical and molecular results of a Saudi infant with a new mutation of MPV17 and compared the features to those of previously reported cases. We stress the importance of such rare cases particularly in countries with high consanguineous marriage rate


Assuntos
Humanos , Masculino , DNA Mitocondrial , Genes Recessivos , Mutação , Proteínas Mitocondriais
20.
Archives of Iranian Medicine. 2012; 15 (7): 449-451
em Inglês | IMEMR (Mediterrâneo Oriental) | ID: emr-144529

RESUMO

Cystic fibrosis [CF] is one of the most common severe autosomal recessive genetic disorders, characterized primarily by chronic obstructive lung disease and maldigestion disorder. The disease is caused by mutations in the CF transmembrane conductance regulator [CFTR] gene. Here we present a case of a fetus with hyperechogenic bowel, in which compound heterozygosity was established for the mutations p.IIe1000fsX1001 and p.Asp110His subsequent to amniocentesis. The mutations were most likely disease-causing, and pregnancy was terminated


Assuntos
Humanos , Feminino , Regulador de Condutância Transmembrana em Fibrose Cística , Feto , Genes Recessivos , Segundo Trimestre da Gravidez , Intestino Ecogênico , Amniocentese
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