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Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 757-760, 2021.
Artículo en Chino | WPRIM | ID: wpr-888388
ABSTRACT
OBJECTIVE@#To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.@*METHODS@#Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).@*CONCLUSION@#The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Deformidades Congénitas de la Mano / Factores de Intercambio de Guanina Nucleótido / Enfermedades Genéticas Ligadas al Cromosoma X / Enanismo / Cara / Genitales Masculinos / Cardiopatías Congénitas / Mutación Tipo de estudio: Guía de Práctica Clínica / Estudio pronóstico Límite: Niño / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2021 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Deformidades Congénitas de la Mano / Factores de Intercambio de Guanina Nucleótido / Enfermedades Genéticas Ligadas al Cromosoma X / Enanismo / Cara / Genitales Masculinos / Cardiopatías Congénitas / Mutación Tipo de estudio: Guía de Práctica Clínica / Estudio pronóstico Límite: Niño / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2021 Tipo del documento: Artículo