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Genetic analysis of three patients with Kleefstra syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 347-350, 2021.
Artigo em Chinês | WPRIM | ID: wpr-879583
ABSTRACT
OBJECTIVE@#To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome.@*METHODS@#Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR.@*RESULTS@#Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents.@*CONCLUSION@#Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Cromossomos Humanos Par 9 / Testes Genéticos / Deleção Cromossômica / Anormalidades Craniofaciais / Variações do Número de Cópias de DNA / Cardiopatias Congênitas / Deficiência Intelectual / Mutação Tipo de estudo: Guia de Prática Clínica Limite: Feminino / Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Cromossomos Humanos Par 9 / Testes Genéticos / Deleção Cromossômica / Anormalidades Craniofaciais / Variações do Número de Cópias de DNA / Cardiopatias Congênitas / Deficiência Intelectual / Mutação Tipo de estudo: Guia de Prática Clínica Limite: Feminino / Humanos Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2021 Tipo de documento: Artigo