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1.
Edumecentro ; 12(1): 169-184, ene.-mar. 2020. tab, graf
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1090005

RESUMO

RESUMEN Fundamento: la asimilación de los contenidos de la asignatura Genética Médica requiere un aprendizaje significativo para responder a las exigencias del modelo del profesional y al acelerado desarrollo de la propia ciencia. Objetivo: identificar los factores que dificultan la asimilación de los contenidos de Genética Medica en estudiantes de Medicina. Métodos: se realizó un estudio descriptivo transversal en la Universidad de Ciencias Médicas "Dr. Zoilo Marinello Vidaurreta" de la provincia Las Tunas, durante el curso 2016-2017. Se emplearon métodos teóricos: análisis-síntesis, inductivo-deductivo e histórico-lógico; y empíricos: prueba pedagógica, encuesta en forma de cuestionario y entrevista de carácter grupal, los que contribuyeron a la fundamentación y elaboración de los resultados. Resultados: se constataron dificultades en la retención de los contenidos de Genética Médica en los estudiantes; se reconocieron como factores que inciden los inadecuados métodos y medios de enseñanza, insuficiencias de bibliografía y su complejidad, y la descontextualización de las situaciones problémicas con las del futuro desempeño profesional. Conclusiones: los factores que dificultan la asimilación de los contenidos de Genética Médica están condicionados por la deficiente utilización de estrategias de enseñanza aprendizaje, en las que deben predominar métodos activos y medios de enseñanza novedosos y motivadores.


ABSTRACT Background: the assimilation of the contents of the Medical Genetics subject requires meaningful learning to respond to the demands of the professional model and the accelerated development of science itself. Objective: to identify the factors which hinder the assimilation of the contents of Medical Genetics in medical students. Method: a cross-sectional descriptive study was carried out at "M D. Zoilo Marinello Vidaurreta" University of Medical Sciences from Las Tunas province, during the 2016-2017 academic year. Theoretical methods were used: analysis-synthesis, inductive-deductive and systemic-structural; and empirical ones: pedagogical test, questionnaire survey and group interview, which contributed to the foundation and elaboration of results. Results: difficulties were observed in the retention of the contents of Medical Genetics in the students; factors that affect were recognized they are the inadequate methods and teaching aids, inadequacies of bibliography and its complexity, and the decontextualization of the problem solving situations with those of future professional performance. Conclusions: the factors that hinder the assimilation of the contents of Medical Genetics are conditioned by the deficient use of teaching-learning strategies, in which active methods and innovative and motivating teaching methods must predominate.


Assuntos
Estratégias , Educação Médica , Genética , Aprendizagem
2.
Arch. argent. pediatr ; 118(1): 61-63, 2020-02-00.
Artigo em Inglês, Espanhol | LILACS (Américas), BINACIS | ID: biblio-1095673

RESUMO

Maritornes es una de las figuras femeninas creadas por Cervantes en El Quijote. Aparece en varios capítulos de la primera parte, y es más importante su protagonismo en los capítulos XVIy XLIII. En la primera aparición del capítulo XVI, Cervantes relata a Maritornes con signos físicos compatibles con algún síndrome genético. De acuerdo con esta descripción, el objetivo del trabajo es presentar la posibilidad de que lo que describe Cervantes en el año 1605 en el personaje Maritornes haya sido una mujer con un trastorno genético.


Maritornes is a female character created by Cervantes for Don Quixote. She appears in several chapters of part one and takes on a greater role in chapters XVI and XLIII. In her first appearance in chapter XVI, Cervantes describes Maritornes as having physical signs compatible with a genetic disorder. According to this description, the objective of this article was to pose the possibility that, in 1605, Cervantes described Maritornes as a woman with a genetic disorder.


Assuntos
Humanos , Genética , Doenças Genéticas Inatas , Pessoas Famosas
3.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785344

RESUMO

The current document is based on a consensus reached by a panel of experts from the Chinese Society of Allergy and the Chinese Society of Otorhinolaryngology-Head and Neck Surgery, Rhinology Group. Chronic rhinosinusitis (CRS) affects approximately 8% of Chinese adults. The inflammatory and remodeling mechanisms of CRS in the Chinese population differ from those observed in the populations of European descent. Recently, precision medicine has been used to treat inflammation by targeting key biomarkers that are involved in the process. However, there are no CRS guidelines or a consensus available from China that can be shared with the international academia. The guidelines presented in this paper cover the epidemiology, economic burden, genetics and epigenetics, mechanisms, phenotypes and endotypes, diagnosis and differential diagnosis, management, and the current status of CRS in China. These guidelines—with a focus on China—will improve the abilities of clinical and medical staff during the treatment of CRS. Additionally, they will help international agencies in improving the verification of CRS endotypes, mapping of eosinophilic shifts, the identification of suitable biomarkers for endotyping, and predicting responses to therapies. In conclusion, these guidelines will help select therapies, such as pharmacotherapy, surgical approaches and innovative biotherapeutics, which are tailored to each of the individual CRS endotypes.


Assuntos
Adulto , Grupo com Ancestrais do Continente Asiático , Biomarcadores , China , Consenso , Diagnóstico , Diagnóstico Diferencial , Tratamento Farmacológico , Eosinófilos , Epidemiologia , Epigenômica , Genética , Humanos , Hipersensibilidade , Inflamação , Agências Internacionais , Corpo Clínico , Pescoço , Fenótipo , Medicina de Precisão
4.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811416

RESUMO

PURPOSE: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD.METHODS: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25).RESULTS: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8 months vs. 23.7±30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term.CONCLUSION: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.


Assuntos
Criança , Demografia , Fibrose , Seguimentos , Gastroenterologia , Genética , Genótipo , Hepatite Crônica , Humanos , Hepatopatias , Fígado , Patologia , Prevalência , Prognóstico
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811070

RESUMO

The transcriptome represents the complete set of RNA transcripts that are produced by the genome under a specific circumstance or in a specific cell. High-throughput methods, including microarray and bulk RNA sequencing, as well as recent advances in biostatistics based on machine learning approaches provides a quick and effective way of identifying novel genes and pathways related to asthma, which is a heterogeneous disease with diverse pathophysiological mechanisms. In this manuscript, we briefly review how to analyze transcriptome data and then provide a summary of recent transcriptome studies focusing on asthma pathogenesis and asthma drug responses. Studies reviewed here are classified into 2 classes based on the tissues utilized: blood and airway cells.


Assuntos
Asma , Bioestatística , Genética , Genoma , Aprendizado de Máquina , RNA , Análise de Sequência de RNA , Transcriptoma
6.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781700

RESUMO

OBJECTIVE@#To study the expression of microRNA-495-5p (miRNA-495-5p) in the serum of preterm infants with bronchopulmonary dysplasia (BPD) based on a bioinformatics analysis, and to provide a theoretical basis for further research on the association between miRNA-495-5p and BPD.@*METHODS@#A total of 40 preterm infants who were admitted to the neonatal intensive care unit from January 2015 to December 2016 were enrolled. Among these infants, 20 with early clinical manifestations of BPD were enrolled as the BPD group, and 20 without such manifestations were enrolled as the control group. Peripheral blood samples were collected. The miRNA microarray technique was used to screen out differentially expressed miRNAs in serum between the two groups. RT-PCR was used for validation of results. TargetScan, miRDB, and miRWalk databases were used to predict the target genes of miRNA-495-5p. The DAVID database was used to perform gene ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis of the target genes.@*RESULTS@#Compared with the control group, the BPD group had a significant increase in the expression of miRNA-495-5p in serum (P<0.05). A total of 117 target genes of miRNA-495-5p were predicted by the above three databases and they were involved in several molecular functions (including transcriptional regulatory activity, transcriptional activation activity, and transcription cofactor activity), biological processes (such as metabolic regulation, DNA-dependent transcriptional regulation, and vascular pattern), and cell components (including nucleoplasm, membrane components, and insoluble components) (P<0.05). As for signaling pathways, these genes were significantly enriched in the mTOR signaling pathway (P<0.05).@*CONCLUSIONS@#MiRNA-495-5p may be involved in the development and progression of BPD by regulating angiogenesis, stem cell differentiation, apoptosis, and autophagy, which provides clues for further research on the role and functional mechanism of miRNA-495-5p in BPD.


Assuntos
Displasia Broncopulmonar , Biologia Computacional , Humanos , Recém-Nascido , Recém-Nascido Prematuro , MicroRNAs , Genética , Transcrição Genética
7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781308

RESUMO

OBJECTIVE@#To explore susceptibility genes for autism spectrum disorders (ASD).@*METHODS@#Whole-exome sequencing was carried out for 60 family trios affected with sporadic ASD. Genetic variants discovered in over 10% of the patients were selected for genotype-phenotype correlation and pathway enrichment analysis using Phenolyzer software and metascape database. Combining gene-phenotypic scores, pathway-related genes associated with neural and neurite triggering were screened for the candidates.@*RESULTS@#A total of 170 common variants were found to be associated with the ASD phenotype. Among these, there was only one high-confidence gene [SHANK2(0.8146)] and four medium-confidence genes [ERBB2(0.1322), LAMC3(0.1117), PPFIA4(0.1059), DISC1(0.1002)]. Twenty-pathways and four biological processes were found to be statistically significant by pathway enrichment analysis, which included neuron projection morphogenesis (GO: 0048812), regulation of neuroblast proliferation (GO: 1902692), modulation of excitatory postsynaptic potential (GO: 0098815), and dendrite morphogenesis (GO: 0048813). Twenty-one genes were found to be closely associated with neurological and neurite triggering, among which only SHANK2, ERBB2, and DISC1 had above-medium confidence correlation scores with the ASD phenotypes.@*CONCLUSION@#Abnormal neuron projection morphogenesis (GO: 0048812) may be closely related to the occurrence of ASD. SHANK2, ERBB2, and DISC1 are susceptibility genes for ASD.


Assuntos
Transtorno do Espectro Autista , Genética , Predisposição Genética para Doença , Variação Genética , Humanos , Fenótipo , Sinapses , Genética , Sequenciamento Completo do Exoma
8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781307

RESUMO

OBJECTIVE@#To analyze variants of PRRT2 gene in two children with paroxysmal kinesigenic dyskinesia.@*METHODS@#Genomic DNA of the two children and their parents was extracted from peripheral venous blood samples. All exons and their flanking regions of the PRRT2 gene were subjected to PCR and Sanger sequencing.@*RESULTS@#The two children were found to respectively harbor a c.282dupA and a c.715_716dupCC variant in exon 2 of the PRRT2 gene, which were both inherited from their mothers. Pooling together their frequencies in general population, genetic models, related literature and impact on protein function, the two novel variants were both predicted to be pathogenic.@*CONCLUSION@#The c.282dupA and c.715_716dupCC variants probably underlie the disease in the two children.


Assuntos
Criança , Distonia , Genética , Feminino , Humanos , Proteínas de Membrana , Genética , Mutação , Proteínas do Tecido Nervoso , Genética
9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781306

RESUMO

OBJECTIVE@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*METHODS@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*RESULTS@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6;14) (p25.1;p13) translocation, while the fetus has a der(6)t(6;14)(p25.1;p13) derived the paternal translocation.@*CONCLUSION@#The der(6)t(6;14)(p25.1;p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father's cryptic balanced translocation.


Assuntos
Síndrome de Dandy-Walker , Diagnóstico , Genética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Translocação Genética
10.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781305

RESUMO

OBJECTIVE@#To detect pathogenic variant of ARSA gene in an infant with late infantile metachromatic leukodystrophy (MLD).@*METHODS@#The male proband had an onset of walking dysfunction and seizure at 28 months. Arylsulfatase A activity of his peripheral blood leucocytes was 26.9 nmol/mg.17h, and cranial MRI showed wild symmetrical demyelination. With genomic DNA extracted from his peripheral blood sample, all coding exons and splicing sites of the ARSA gene were subjected to Sanger sequencing. PubMed Protein BLAST system was employed to analyze cross-species conservation of the mutant amino acid. Ucsf chimera software was used to analyze the impact of candidate variants on the secondary structure of the protein product. Impact of potential variants was also analyzed with software including PolyPhen-2, Mutation Taster, SIFT and PROVEAN. Whole-exome sequencing was carried out to identify additional variants which may explain the patient's condition.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*)], neither of which was reported previously. As predicted by Ucsf chimera software, the c.960G>A (p.Trp320*) variant may demolish important secondary structures including α-helix, β-strand and coil of the ARSA protein, causing serious damage to its structure and loss of function. The c.467G>A (p.Gly156Asp) variant was predicted to be "probably damaging" by PolyPhen-2, Mutation Taster and SIFT software.@*CONCLUSION@#The patient's condition may be attributed to the compound heterozygous c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*) variants of the ARSA gene. Above results have facilitated genetic counseling and prenatal diagnosis for this family.


Assuntos
Cerebrosídeo Sulfatase , Genética , Éxons , Genética , Feminino , Humanos , Lactente , Leucodistrofia Metacromática , Genética , Masculino , Mutação , Genética , Gravidez , Processamento de RNA , Genética
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781304

RESUMO

OBJECTIVE@#To explore the genetic basis of a pedigree affected with hereditary spherocytosis.@*METHODS@#Peripheral blood samples were collected from 17 members of the pedigree. Genomic DNA of the proband was subjected to next generation sequencing. Candidate variant was validated by co-segregation analysis. pCAS2(c.5798+1G) and pCAS2(c.5798+1A) plasmids were constructed by homologous recombination and transfected into 293T cells. Reverse transcription PCR, TA cloning and Sanger sequencing were used to analyze the effect of candidate variant on splicing. Meanwhile, peripheral blood RNAs were extracted to analyze the effect of candidate variant on splicing in vivo.@*RESULTS@#The proband was found to carry a c.5798+1G>A variant of the SPTB gene. The variant has co-segregated with the phenotype in the pedigree. In vitro and in vivo splicing experiments confirmed that the mutation has significantly affected the splicing, resulting in shift of reading frame and produced a premature termination codon.@*CONCLUSION@#The novel c.5798+1G>A variant of the SPTB gene probably underlies the pathogenesis of hereditary spherocytosis in this pedigree.


Assuntos
Códon sem Sentido , Genética , Variação Genética , Células HEK293 , Humanos , Mutação , Genética , Linhagem , Plasmídeos , Processamento de RNA , Espectrina , Genética , Esferocitose Hereditária , Genética , Transfecção
12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781303

RESUMO

OBJECTIVE@#To identify potential variant in a child diagnosed as infantile neuroaxonal dystrophy.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the patient and his parents and subjected to next generation sequencing. Suspected variant was verified by PCR and Sanger sequencing. Pathogenicity of the mutation was predicted by using bioinformatic software including SIFT and PolyPhen-2.@*RESULTS@#The child was found to carry compound heterozygous variations c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene, which were respectively inherited from his father and mother. c.2266C>T has changed codon 756 (glutamine) into a stop codon, resulting premature termination of peptide chain synthesis. c.2266C>T has not been reported previously and was predicted to be harmful.@*CONCLUSION@#The compound variants of c.668C>A (p.Pro223Gln) and c.2266C>T (p.Gln756Ter) of the PLA2G6 gene probably underlies the disease in the child. Above finding has enriched the variant spectrum of the PLA2G6 gene.


Assuntos
Criança , Fosfolipases A2 do Grupo VI , Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , Distrofias Neuroaxonais , Genética
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781302

RESUMO

OBJECTIVE@#To explore the genetic etiology of a pedigree affected with Norrie disease.@*METHODS@#Four individuals from the core family of the proband were subjected to whole exome sequencing in order to identify the pathological variant. Sanger sequencing was used to verify the finding among 7 additional members from the pedigree.@*RESULTS@#The proband and other 3 male patients have all carried a hemizygote c.361C>T (p.Arg121Trp) missense variant of the NDP gene, for which his mother, grandmother and two younger female cousins were heterozygous carriers. The same variant was not detected among unaffected males. Above results conformed to a X-linked recessive pattern of inheritance.@*CONCLUSION@#The missense variant c.361C>T of the NDP gene probably underlies the Norrie disease in this pedigree.


Assuntos
Cegueira , Genética , Proteínas do Olho , Genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X , Genética , Humanos , Masculino , Proteínas do Tecido Nervoso , Genética , Doenças do Sistema Nervoso , Genética , Linhagem , Degeneração Retiniana , Genética , Espasmos Infantis , Genética
14.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781301

RESUMO

OBJECTIVE@#To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria.@*METHODS@#Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity of the candidate variant was predicted based on clinical presentation and laboratory tests.@*RESULTS@#The infant's phenotypes included brain development retardation and proteinuria. Cranial MRI indicated widening of cerebral fissure, bilateral frontal and temporal subarachnoid cavities, and dysplasia of white matter myelination in posterior angular of ventricle. A novel duplication of exons 5 to 16 of the OCRL gene was found in the patient. His mother has carried the same duplication variant.@*CONCLUSION@#The duplication variant of the OCRL gene probably underlies the oculo-cerebro-renal syndrome in the infant. Due to the heterogeneity of its clinical manifestation, pertinent genetic detection is essential for acurrate diagnosis of patients who have the related phenotypes.


Assuntos
Éxons , Genética , Testes Genéticos , Humanos , Lactente , Síndrome Oculocerebrorrenal , Genética , Fenótipo , Monoéster Fosfórico Hidrolases , Genética
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781300

RESUMO

OBJECTIVE@#To explore hematological and genotypic characteristics of patients with hemoglobin E (Hb E) disorders from Yunnan Province.@*METHODS@#One hundred individuals with Hb E disorders indicated by high performance liquid chromatography (HPLC) were subjected to genetic testing through multiple gap-PCR and reverse dot-blotting analysis.@*RESULTS@#All patients were found to harbor a mutation to the 26th codon of the β -globin chain (HBB: c.79G>A). Ninety patients were heterozygotes, and 10 co-inherited c.79G>A and an α -thalassemia mutation (7 α α /-α, 2 α α /-- and 1 -α /-α). Hematological characteristics of the heterozygotes were: Hb A2 (26.02±3.64)%, Hb F(1.35±1.25)%, MCV(78.83±4.68) fl, MCH(26±1.54) pg, MCHC (329.65±10.73) g/L, HGB (141.08±16.53) g/L, while that of the co-inherited cases was decided by the type of α -thalassemia mutation.@*CONCLUSION@#Hb E can be effectively detected by HPLC. The type of α -thalassemia mutations will determine hematological features of co-inherited cases. Hb E disorders may be missed by relying only on routine blood test upon prenatal screening.


Assuntos
China , Feminino , Genótipo , Hemoglobina E , Genética , Humanos , Mutação , Gravidez , Talassemia alfa , Genética , Globinas beta , Genética
16.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781299

RESUMO

OBJECTIVE@#To determine the frequency, common chromosomal karyotypes and breakpoints, and involved regions among carriers of reciprocal translocations from Henan Province, and to explore the influence of common breakpoint regions on pregnancy and fetal development.@*METHODS@#For 586 carriers of reciprocal translocations, the above features were retrospectively analyzed.@*RESULTS@#The 586 reciprocal translocations were identified among 62 477 subjects, which yielded a frequency of 0.94%. Among these, 572 (0.92%) had abnormal fertility, and 14 (0.02%) had a history of abnormal fetal development. Statistical analysis showed that chromosomes 1, 4, 7 and 11 were most frequently involved, with t(11;22)(q25;q13) being the most common type of translocation. In total 437 breakpoint regions were identified, with 11q23, 22q13 and 1p36 being most frequently involved, which resulted in infertility, abortion, embryo death, congenital malformation, development delay, mental retardation or a normal phenotype.@*CONCLUSION@#Above results indicated a 0.92% carrier rate for reciprocal chromosomal translocations in Henan. The location of breakpoint regions may affect the pregnancy and/or fetal development. Discovery of such regions may enable more accurate genetic, reproductive and developmental counseling for carriers, and provide reference for delineation of function and pathogenetic mechanism of the relevant genes.


Assuntos
Pontos de Quebra do Cromossomo , Feminino , Heterozigoto , Humanos , Cariótipo , Cariotipagem , Gravidez , Estudos Retrospectivos , Translocação Genética , Genética
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781298

RESUMO

OBJECTIVE@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*METHODS@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*CONCLUSION@#The heterozygous variant of c.2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.


Assuntos
Testes Genéticos , Heterozigoto , Humanos , Deficiência Intelectual , Genética , Masculino , Mutação , Ubiquitina-Proteína Ligases Nedd4 , Genética , Heterotopia Nodular Periventricular , Genética
18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781297

RESUMO

OBJECTIVE@#To explore the genetic basis for a family affected with congenital heart defects.@*METHODS@#G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus.@*RESULTS@#G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene.@*CONCLUSION@#The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 8 , Genética , Fator de Transcrição GATA4 , Genética , Testes Genéticos , Cardiopatias Congênitas , Genética , Humanos , Cariotipagem
19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781296

RESUMO

OBJECTIVE@#To carry out multipath cytogenetic analysis of a rare case of acute myeloid leukemia (AML) with 11q23 aberration and D13S319 deletion.@*METHODS@#G+R banding technique was used to analyze the chromosomal karyotype of the patient after 24 h of cell culture. Combined interphase and metaphase fluorescence in situ hybridization (FISH) was used to detect specific chromosomal sites for complex translocations and minor missing fragments.@*RESULTS@#The patient was found to harbor MLL-AF10 fusion gene due to rearrangement of the mixed lineage leukemia (MLL) gene in conjunct with deletion of the D13S319 locus on chromosome 13.@*CONCLUSION@#Whether MLL gene rearrangement and absence of D13S319 locus has a double impact on AML should attract more attention. For AML patient with clonal abnormalities such as 13q-, del(13)(q14), -13 or der(13), FISH assay should be proof and considered to determine the size of missing fragment so as targeted therapy may be implemented.


Assuntos
Células Cultivadas , Cromossomos Humanos Par 11 , Genética , Humanos , Hibridização in Situ Fluorescente , Interfase , Cariotipagem , Leucemia Mieloide Aguda , Genética , Metáfase , Translocação Genética
20.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-781295

RESUMO

OBJECTIVE@#To delineate the clinical features,inheritance pattern, and genotype-phenotype correlation of a Chinese patient with a 17q25.3 duplication.@*METHODS@#Whole exome sequencing(WES), chromosomal microarray analysis (CMA), chromosomal karyotyping and fluorescence in situ hybridization (FISH) were employed for the analysis of the proband and his family members.@*RESULTS@#A 5.7 Mb duplication at 17q25.3→qter was identified by WES and CMA in the 4-year-old boy with multiple congenital anomalies, which was classified as a clinically pathogenic variant. This duplication was confirmed by FISH, and was inherited from his unaffected mother who carried a balanced translocation. Further study revealed that his grandmother also carried the balanced translocation but had gestated three healthy children and had no abortion history. His uncle also carried the balanced translocation, while his aunt was normal.@*CONCLUSION@#Above results have enriched the clinical phenotypes of 17q25.3 duplication. Genetic counseling was provided for the family. P4HB, ACTG1, BAIAP2 and TBCD genes may underlie the clinical features for the 17q25.3 duplication.


Assuntos
Anormalidades Múltiplas , Genética , Adulto , Pré-Escolar , China , Duplicação Cromossômica , Cromossomos Humanos Par 17 , Genética , Deficiências do Desenvolvimento , Genética , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Proteínas Associadas aos Microtúbulos , Translocação Genética
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