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Genetic analysis of a male infant with Menkes disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 479-482, 2020.
Artículo en Chino | WPRIM | ID: wpr-826550
ABSTRACT
OBJECTIVE@#To carry out genetic testing for a male infant suspected for Menkes disease.@*METHODS@#Genomic DNA of the proband and his parents were extracted and subjected to family trio whole exome sequencing (WES). Microduplication and microdeletion of the ATP7A gene were detected by multiplex ligation-dependent probe amplification (MLPA). Suspected variants were subjected to bioinformatic analysis and verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a de novo c.1870 -13T>G variation of the ATP7A gene, which may alter a splice site and affect its protein product.@*CONCLUSION@#The patient was diagnosed with Menkes disease due to the c.1870 -13T>G variant of the ATP7A gene. Whole exome sequencing of family trios is a powerful tool for the diagnosis of diseases with strong phenotypic heterogeneity.
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Pruebas Genéticas / Reacción en Cadena de la Polimerasa Multiplex / ATPasas Transportadoras de Cobre / Secuenciación del Exoma / Genética / Síndrome del Pelo Ensortijado / Mutación Tipo de estudio: Estudio pronóstico Límite: Humanos / Lactante / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2020 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Pruebas Genéticas / Reacción en Cadena de la Polimerasa Multiplex / ATPasas Transportadoras de Cobre / Secuenciación del Exoma / Genética / Síndrome del Pelo Ensortijado / Mutación Tipo de estudio: Estudio pronóstico Límite: Humanos / Lactante / Masculino Idioma: Chino Revista: Chinese Journal of Medical Genetics Año: 2020 Tipo del documento: Artículo