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1.
Article in Chinese | WPRIM | ID: wpr-879565

ABSTRACT

OBJECTIVE@#To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.@*METHODS@#Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature.@*RESULTS@#The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Laboratory testing showed elevated liver enzymes and total IgE, decreased albumin and electrolyte imbalance. Gastrointestinal endoscopy revealed erosion and granules in the duodenum, and edema in the terminal ileum and colon. Biopsies showed villous atrophy in the duodenum and terminal ileum. Genetic testing revealed that the patient has carried a missense c.1087A>G (p.I363V) variant in the exon 10 of the FOXP3 gene. He was treated with enteral and parenteral nutrition, anti infection and Sirolimus, and was waiting for hemopoietic stem cell transplantation.@*CONCLUSION@#Although IPEX syndrome usually occur during infancy, it should not be ruled out solely based on the age, and its presentation can be variable. For male children with refractory diarrhea, autoimmune disorder and growth retardation, the diagnosis should be suspected and confirmed by genetic testing.


Subject(s)
Child, Preschool , Diabetes Mellitus, Type 1/genetics , Diarrhea/genetics , Forkhead Transcription Factors/genetics , Genetic Diseases, X-Linked/genetics , Genetic Testing , Humans , Immune System Diseases/genetics , Male , Mutation , Polyendocrinopathies, Autoimmune/genetics
2.
Rev. chil. pediatr ; 91(4): 584-590, ago. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1138675

ABSTRACT

INTRODUCCIÓN: El síndrome IPEX (inmunodesregulación, poliendocrinopatía y enteropatía autoinmune ligada a X) causado por mutaciones en el gen FOXP3, se caracteriza por diarrea prolongada, alteraciones endocrinológicas y dermatitis. El tratamiento consiste en la administración de medicamentos inmunosupresores, siendo el trasplante de médula ósea la única cura potencial. OBJETIVO: Describir una nueva mutación del gen FOXP3, así como los hallazgos y evolución de un paciente con síndrome IPEX. CASO CLÍNICO: Lactante menor masculino que debutó al mes de vida con diarrea cró nica, falla intestinal e infecciones recurrentes. Exámenes de laboratorio y biopsia intestinal sugerentes de enteropatía autoinmune. Durante el seguimiento, el paciente presentó refractariedad al manejo inmunosupresor con esteroides, ciclosporina y tacrolimus, falleciendo a los 7 meses de edad por complicaciones vasculares. Antecedente familiar por línea materna de múltiples muertes en hombres menores de 1 año. Ante la sospecha de síndrome IPEX se realizó exoma en trío que reportó una mutación probablemente patogénica en el gen FOXP3. CONCLUSIÓN: Se documentó una nueva mutación del gen FOXP3 en paciente con síndrome IPEX. A pesar de la baja prevalencia de esta enfermedad, es importante el reconocimiento de síntomas no específicos pero sugerentes del diagnóstico.


INTRODUCTION: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syn drome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endo crine disorders, and dermatitis. The treatment is the administration of immunosuppressive drugs, where hematopoietic stem cell transplantation is the only potential cure. OBJECTIVE: To describe a new FOXP3 gene mutation, as well as the findings and evolution of a patient with IPEX syndrome. CLINICAL CASE: Male infant presenting at one month of age with chronic diarrhea, intestinal failure, and recurrent infections. Lab tests and intestinal biopsy suggested autoimmune enteropathy. During follow-up, the patient presented resistance to immunosuppressive treatment with corticosteroids, cyclosporine, and tacrolimus, dying at 7 months of age due to vascular complications. He had a ma ternal family history of multiple deaths of men under 1 year of age. IPEX syndrome was suspected therefore a trio whole-exome sequencing was performed that showed a probably pathogenic FOXP3 gene mutation. CONCLUSION: A new FOXP3 gene mutation is reported in a patient with IPEX syndro me. Despite the low prevalence of this disease, it is important to recognize non-specific but suggestive symptoms for its diagnosis.


Subject(s)
Humans , Male , Infant , Genetic Diseases, X-Linked/diagnosis , Diabetes Mellitus, Type 1/congenital , Diarrhea/diagnosis , Forkhead Transcription Factors/genetics , Immune System Diseases/congenital , Pedigree , Genetic Markers , Chronic Disease , Fatal Outcome , Genetic Diseases, X-Linked/genetics , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/genetics , Diarrhea/genetics , Immune System Diseases/diagnosis , Immune System Diseases/genetics , Mutation
3.
An. bras. dermatol ; 94(3): 341-343, May-June 2019. graf
Article in English | LILACS | ID: biblio-1011101

ABSTRACT

Abstract: CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.


Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/drug therapy , Lovastatin/administration & dosage , Cholesterol/metabolism , Ichthyosiform Erythroderma, Congenital/drug therapy , Limb Deformities, Congenital/drug therapy , Genetic Diseases, X-Linked/drug therapy , Anticholesteremic Agents/administration & dosage , Abnormalities, Multiple/genetics , Cholesterol/biosynthesis , Administration, Topical , Ichthyosiform Erythroderma, Congenital/genetics , Limb Deformities, Congenital/genetics , Genetic Diseases, X-Linked/genetics , Metabolic Diseases/genetics
4.
Rev. cuba. pediatr ; 90(2): 321-329, abr.-jun. 2018. ilus
Article in Spanish | LILACS | ID: biblio-901492

ABSTRACT

Introducción: la incontinencia pigmenti es una genodermatosis rara ligada al cromosoma X, afecta al sexo femenino y tiene diferentes expresiones clínicas en una misma familia. Presentación del caso: preescolar de 20 meses de edad, con antecedente familiar de incontinencia pigmenti, que presentó lesiones típicas en la piel desde la primera semana de vida, de aspectos lineales, vesículo-costro-ampollosas, verrucosas, y luego hiperpigmentadas, en diferentes fases y múltiples brotes. Comienza desde el primer mes de vida con crisis epilépticas que evoluciona a una encefalopatía de West, con buena respuesta a la vigabatrina y control de los espasmos infantiles. Conclusiones: la incontinencia pigmenti se caracteriza por afectar, de forma variable, a los tejidos derivados del neuroectodermo, la piel y otras faneras, ojos y el sistema nervioso central, provoca daño multisistémico. Las lesiones de la piel son las más significativas desde el nacimiento, y la biopsia de piel confirma el diagnóstico(AU)


Introduction: incontinentia pigmenti is a rare genodermatosis linked to the X chromosome. It affects the female sex and has different clinical manifestations in the same family. Case presentation: a 20-month-old infant with a family history of incontinentia pigmenti, who from the first week of life presented typical lesions on the skin of linear, vesicular-crust-bullous, warty, and then hyperpigmented aspects, in different phases and multiple outbreaks. From the first month of life, the patient presented epileptic seizures that evolved to West encephalopathy, with good response to vigabatrin and control of infantile spasms. Conclusions: incontinentia pigmenti is characterized by affecting, in a variable way, the tissues derived from the neuroectoderm, the skin and other skin´s structures, the eyes and the central nervous system causing multisystem damage. Skin lesions are the most significant since birth, and skin biopsy confirms the diagnosis(AU)


Subject(s)
Humans , Female , Infant , Genetic Diseases, X-Linked/genetics , Pigmentation Disorders/complications , Spasms, Infantile
6.
Arch. endocrinol. metab. (Online) ; 59(2): 181-185, 04/2015. tab, graf
Article in English | LILACS | ID: lil-746466

ABSTRACT

X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn. Family history was relevant for a maternal uncle death at the newborn age. Beyond 2 year-old steroid measurements rendered undetectable and delayed bone age was noticed. Molecular analysis of NR0B1 gene revealed a previously unreported mutation (c.1084A>T), leading to a premature stop codon, p.Lys362*, in exon 1. His mother and sister were asymptomatic carriers. At 14 year-old he had 3 mL of testicular volume and biochemical surveys (LH < 0.1 UI/L, total testosterone < 10 ng/dL) concordant with hypogonadotrophic hypogonadism. Kindred B had two males diagnosed with adrenal insufficiency at the newborn age. By 3 year-old both siblings had undetectable androgen levels and delayed bone age. NR0B1 molecular analysis identified a nonsense mutation in both cases, c.243C>G; p.Tyr81*, in exon 1. Their mother and sister were asymptomatic carriers. At 14 year-old (Tanner stage 1) hypothalamic-pituitary-gonadal axis evaluation in both males (LH < 0.1UI/L, total testosterone < 10 ng/dL) confirmed hypogonadotropic hypogonadism. In conclusion, biochemical profiles, bone age and an X-linked inheritance led to suspicion of NR0B1 mutations. Two nonsense mutations were detected in both kindreds, one previously unreported (c.1084A>T; p.Lys362*). Mutation identification allowed the timely institution of testosterone in patients at puberty and an appropriate genetic counselling for relatives.


Subject(s)
Humans , Infant , Infant, Newborn , Male , Adrenal Insufficiency/genetics , DAX-1 Orphan Nuclear Receptor/genetics , Genetic Diseases, X-Linked/genetics , Mutation/genetics , Age Determination by Skeleton , Follow-Up Studies
7.
Arq. neuropsiquiatr ; 72(3): 219-226, 03/2014. tab, graf
Article in English | LILACS | ID: lil-704061

ABSTRACT

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.


Subject(s)
Adult , Humans , Spastic Paraplegia, Hereditary/genetics , Genes, Dominant/genetics , Genes, Recessive/genetics , Genetic Diseases, X-Linked/classification , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Magnetic Resonance Imaging , Mutation , Spastic Paraplegia, Hereditary/classification , Spastic Paraplegia, Hereditary/diagnosis
10.
Arq. bras. endocrinol. metab ; 57(7): 562-565, out. 2013. ilus
Article in English | LILACS | ID: lil-690596

ABSTRACT

Mutation on NROB1 (DAX1) gene can cause different phenotypes of adrenal insufficiency in infancy. Long-term evolution of these patients shows that it is possible to have an association with hypogonadotropic hypogonadism. In this article we describe the evolution of a patient with NROB1 gene mutation, diagnosed with a mild form of adrenal insufficiency, and we highlight the presence of hypogonadotropic hypogonadism and short stature, besides the presence of attention deficit disorder. Such associations should make physicians aware during the follow-up of patients with this disease.


Mutações no gene NROB1 (DAX1) podem levar a quadros de insuficiência adrenal com diferentes formas de apresentação na infância. A evolução a longo prazo desses pacientes mostra que pode haver associação com hipogonadismo hipogonadotrófico. Neste artigo, relatamos a evolução de um paciente com uma mutação do gene NROB1, diagnosticado com uma forma leve de insuficiência adrenal, na qual chamamos a atenção para a evolução com hipogonadismo hipogonadotrófico e baixa estatura final, além de apresentar transtorno de déficit de atenção. Tais associações devem ser motivo de atenção para os médicos no seguimento de pacientes portadores dessa alteração.


Subject(s)
Humans , Male , Adolescent , Adrenal Hyperplasia, Congenital/genetics , Adrenal Insufficiency/genetics , Attention Deficit Disorder with Hyperactivity/physiopathology , DAX-1 Orphan Nuclear Receptor/genetics , Genetic Diseases, X-Linked/genetics , Hypogonadism/genetics , Mutation/genetics , Hypogonadism/drug therapy , Penis/growth & development , Testosterone/administration & dosage
11.
Arq. bras. endocrinol. metab ; 56(8): 496-500, Nov. 2012. ilus, tab
Article in English | LILACS | ID: lil-660256

ABSTRACT

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. Arq Bras Endocrinol Metab. 2012;56(8):496-500.


Relatamos um caso de hipoplasia adrenal congênita (HAC) e hipogonadismo hipogonadotrófico (HH) causado por uma nova mutação do gene DAX1. Paciente do sexo masculino com 19 meses de idade, hiperpigmentação e desenvolvimento inadequado foi encaminhado ao nosso serviço. Antecedente familiar de três irmãos falecidos por falência da adrenal, e um primo materno portador de insuficiência adrenal. Excluída a hipótese de adrenoleucodistrofia. A RM demonstrou hipófise e hipotálamo normais. Os níveis de hormônios plasmáticos mostraram alta concentração de ACTH (até 2.790 pg/mL) e baixos níveis de androstenediona, DHEA-S, 11-deoxicortisol e cortisol. Aos 14 anos de idade, o paciente ainda era pré-púbere, com peso de 43,6 kg (SDS: -0,87) e altura de 161 cm (SDS: -0,36), proporcionado. O teste do GnRH mostrou níveis basais e máximos de LH e FSH, respectivamente, iguais a 0,6/2,1 e < 1,0/< 1,0 U/L. A análise molecular identificou uma nova mutação que consiste da deleção do códon 372 (AAC; asparagina) no éxon 1 do gene DAX1. Essa mutação não foi encontrada em 200 alelos de indivíduos normais. A análise no site PredictProtein indicou que essa alteração, localizada no domínio de ligação do DAX1, pode danificar a proteína. Nossa hipótese é que essa nova mutação (p.Asp372del) do gene DAX1 pode levar a uma alteração na função da proteína DAX1 e está provavelmente envolvida no desenvolvimento da HAC e HH nesse paciente. Arq Bras Endocrinol Metab. 2012;56(8):496-500.


Subject(s)
Humans , Infant , Male , Adrenal Hyperplasia, Congenital/genetics , DAX-1 Orphan Nuclear Receptor/genetics , Genetic Diseases, X-Linked/genetics , Hypogonadism/genetics , Mutation/genetics , Pedigree
12.
J. bras. nefrol ; 34(1): 78-81, jan.-fev.-mar. 2012. ilus, graf, tab
Article in English | LILACS | ID: lil-623359

ABSTRACT

A doença de Dent é uma tubulopatia ligada ao X causada por mutações no gene que codifica o canal de cloro CLCN-5 e é caracterizada por proteinúria de baixo peso molecular, hipercalciúria, nefrocalcinose e insuficiência renal. Vários casos têm sido descritos, nos quais o único sintoma na apresentação foi proteinúria assintomática e glomerulosclerose global ou segmentar. A insuficiência renal nesses pacientes pode ser causada pela hipercalciúria e proteinúria persistente. Portanto, o inibidor da enzima de conversão da angiotensina e os tiazídicos poderiam ser úteis. O objetivo desta pesquisa é relatar os efeitos destas drogas em dois pacientes com doença de Dent tipo 1 com mutações novas. Neste relato não foram observadas correlações significativas entre dose de hidroclorotiazida e calciúria e entre enalapril e proteinúria. Este achado é importante, pois, sendo pacientes poliúricos, o uso destas drogas poderia prejudicar a função renal.


Dent's disease type 1 is an X-linked tubular disease caused by mutations in the renal chloride channel CLCN-5, and it is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, and renal failure. Several cases have been described in which the only presenting symptoms were asymptomatic proteinuria, and focal segmental or global glomerulosclerosis. The renal failure in these patients may be caused by hypercalciuria and persistent proteinuria. Therefore, angiotensin converse enzyme inhibitor and thiazides could be useful. Our aim is to report the effects of these drugs in two novel mutations patients with Dent's disease type 1. In this report, no significant correlations between dosage of hydrochlorothiazide and calciuria and no significant correlations between proteinuria and dosage of enalapril were detected. This is important since these are polyuric patients and these drugs could be dangerous to their renal function.


Subject(s)
Child , Child, Preschool , Humans , Male , Angiotensin-Converting Enzyme Inhibitors/administration & dosage , Enalapril/administration & dosage , Genetic Diseases, X-Linked/drug therapy , Genetic Diseases, X-Linked/genetics , Hydrochlorothiazide/administration & dosage , Nephrolithiasis/drug therapy , Nephrolithiasis/genetics , Mutation , Time Factors
13.
Article in English | WPRIM | ID: wpr-214986

ABSTRACT

Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into genetically different forms according to the mode of inheritance and the gene involved. We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. A pedigree analysis of 3 generations with 6 affected persons revealed an X-linked recessive mode of inheritance. Mutation analysis of the TRAPPC2 (previously called SEDL) gene, the only gene associated with X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT; MIM 313400), was performed, and a splice-donor site mutation in intron 3 of the TRAPPC2 gene (c.93+5G>A) was identified in the proband and in his unaffected mother (a heterozygote). This mutation is one of the 2 most frequent mutations reported in the medical literature, and is known to result in exon 3 skipping. This is the first report of a genetically confirmed X-linked SEDT case in Korea and highlights the importance of recognizing the mode of inheritance in the diagnosis of X-linked SEDT.


Subject(s)
Adolescent , Asians/genetics , DNA Mutational Analysis , Exons , Genetic Diseases, X-Linked/genetics , Humans , Male , Membrane Transport Proteins/genetics , Osteochondrodysplasias/genetics , Pedigree , Republic of Korea , Transcription Factors/genetics
14.
Indian J Hum Genet ; 2011 May; 17(2): 97-99
Article in English | IMSEAR | ID: sea-138944

ABSTRACT

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM), mapped to chromosome 18q21.1, is responsible for DMC. We report here the observation of a consanguineous Moroccan patient having DMC syndrome. The molecular studies showed a previously reported homozygous mutation at c.1878delA of DYM gene. We discuss this recurrent mutation in Moroccan patients with DMC syndrome with a review.


Subject(s)
Child , Consanguinity , /diagnosis , Dwarfism/genetics , Dwarfism/diagnostic imaging , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Genetic Diseases, X-Linked/diagnostic imaging , Humans , Intellectual Disability/diagnosis , Intellectual Disability/genetics , Intellectual Disability/diagnostic imaging , Male , Mutation/genetics , Morocco , Osteochondrodysplasias/congenital , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/genetics , Osteochondrodysplasias/diagnostic imaging , Parents
15.
Femina ; 38(12): 631-636, dez. 2010. tab
Article in Portuguese | LILACS | ID: lil-590574

ABSTRACT

A falência ovariana prematura exige, para avaliação conveniente dos diversos fenômenos etiológicos envolvidos, adequada análise de seus fatores causais. Entre as possíveis causas genéticas, encontram-se anomalias gênicas ou cromossômicas, seja nos cromossomos X ou nos autossomos. O presente estudo apresenta, de modo sucinto, revisão dos fatores genéticos que são responsáveis por tais fenômenos etiológicos.


Premature ovarian failure demands a proper analysis of countless factors for an accurate assessment of the several etiological phenomena processes involved. Among the possible genetic causes, it has been detected genic of chromossomal anomalies, ocurring either on the sex chromosomes or on the autosomes. This study presents a review of the genetic and chromosomal factors which account for etiological phenomena.


Subject(s)
Humans , Female , Congenital Abnormalities/genetics , Chromosome Aberrations , X Chromosome/genetics , Genetic Diseases, X-Linked/genetics , Genetic Predisposition to Disease , Primary Ovarian Insufficiency/etiology , Primary Ovarian Insufficiency/genetics , Chromosome Disorders/genetics
16.
Indian J Hum Genet ; 2010 Sept; 16(3): 169-171
Article in English | IMSEAR | ID: sea-138920

ABSTRACT

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.


Subject(s)
Abnormalities, Multiple/genetics , Adult , Brain/abnormalities , Cataract/congenital , Cataract/epidemiology , Cataract/genetics , Cuspid/abnormalities , Child , Face/abnormalities , Facial Bones/abnormalities , Female , Genetic Diseases, X-Linked/genetics , Heart Defects, Congenital/epidemiology , Heart Defects, Congenital/genetics , Humans , /congenital , Microphthalmos/epidemiology , /genetics , Mothers , Tooth Abnormalities
17.
Braz. j. med. biol. res ; 43(9): 910-913, Sept. 2010. ilus, tab
Article in English | LILACS | ID: lil-556859

ABSTRACT

Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood. We evaluated 5 male Brazilian patients, ranging from 3 to 10 years of age, from unrelated families, whose diagnosis was based on recurrent infections, markedly reduced levels of IgM, IgG and IgA, and circulating B cell numbers <2 percent. BTK gene analysis was carried out using PCR-SSCP followed by sequencing. We detected three novel (Ala347fsX55, I355T, and Thr324fsX24) and two previously reported mutations (Q196X and E441X). Flow cytometry revealed a reduced expression of BTK protein in patients and a mosaic pattern of BTK expression was obtained from mothers, indicating that they were XLA carriers.


Subject(s)
Child , Child, Preschool , Humans , Male , Agammaglobulinemia/genetics , Genetic Diseases, X-Linked/genetics , Mutation/genetics , Protein-Tyrosine Kinases/genetics , Agammaglobulinemia/enzymology , Flow Cytometry , Genetic Diseases, X-Linked/enzymology , Polymerase Chain Reaction , Polymorphism, Single-Stranded Conformational
18.
Indian J Pediatr ; 2010 Apr; 77(4): 431-433
Article in English | IMSEAR | ID: sea-142553

ABSTRACT

Congenital myopathies are a group of genetic disorders characterized by generalised muscle hypotonia and weakness of varying severity. They are distinct entities and do not include muscular dystrophies, metabolic myopathies and mitochondrial disorders. Myotubular myopathy is a rare sub type within this group of disorders. Clinical differentiation of the various types is difficult and requires muscle biopsy with histopathological and immunohistochemical studies for specific diagnosis. Gene studies are a prerequisite for genetic counseling adn prenatal diagnosis. Here presented three cases of X-linked myotubular myopathy in three Indian families where the diagnosis was established by mutation analysis in the MTM1 gene in all, and supported his histopathology in two. All three families had history of previous male neontal deaths with similar complaints. Molecular analysis revealed hemizygous mutations in the MTM1 gene including c.1261-10A>G in case, 1, c.70C>T (R24X) in case 2, and a previously unreported mutation, c.924_926delCTT(p. F308del), in case 3. Genetic counseling was performed regarding the X-linked inheritance, their 50% risk of recurrence in boys in subsequent pregnancies, and a feasibility of prenatal diagnosis. This is the first report of cases of X-linked Myotubular myopathy from India.


Subject(s)
Genetic Diseases, X-Linked/genetics , Humans , Infant, Newborn , Male , Muscle, Skeletal/pathology , Mutation , Myopathies, Structural, Congenital/diagnosis , Myopathies, Structural, Congenital/genetics , Myopathies, Structural, Congenital/pathology , Protein Tyrosine Phosphatases, Non-Receptor/genetics
19.
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2010; 20 (11): 770-772
in English | IMEMR | ID: emr-117638

ABSTRACT

We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic


Subject(s)
Humans , Infant , Female , Focal Dermal Hypoplasia/complications , Focal Dermal Hypoplasia/genetics , Genetic Diseases, X-Linked/genetics , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/complications , Phenotype
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