Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 108-111, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879533
ABSTRACT
OBJECTIVE@#To explore the genetic basis for three children with Menkes disease.@*METHODS@#The patients were subjected to next-generation sequencing (NGS) to detect potential variants of the ATP7A gene. Suspected variants were verified by Sanger sequencing of their family members and 200 healthy individuals. Multiplex ligation-dependent probe amplification (MLPA) was also carried out to detect potential deletions in their family members and 20 healthy individuals.@*RESULTS@#Variants of the ATP7A gene were detected in all of the three families, including a novel c.1465A>T nonsense variant in family 1, a novel c.3039_3043del frame-shifting variant in family 2, and deletion of exons 3 to 23 in family 3, which was reported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.1465A>T and c.3039_3043del variants of ATP7A gene were predicted to be likely pathogenic (PVS1+PM2).@*CONCLUSION@#Variants of the ATP7A gene may underlay the Menkes disease in the three children. Above findings have facilitated clinical diagnosis and enriched the spectrum of genetic variants of Menkes disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Estudos de Casos e Controles
/
Éxons
/
Saúde da Família
/
Sequenciamento de Nucleotídeos em Larga Escala
/
ATPases Transportadoras de Cobre
/
Síndrome dos Cabelos Torcidos
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Mutação
Tipo de estudo:
Guia de Prática Clínica
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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