Analysis of ADAR gene variant in a Chinese pedigree affected with dyschromatosis symmetrica hereditaria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 202-204, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-928389
ABSTRACT
OBJECTIVE@#To analyze the clinical features and genetic basis for a Chinese pedigree affected with hereditary dyschromatosis symmetrica hereditaria (DSH).@*METHODS@#Peripheral blood samples of the proband and his mother were collected and subjected to PCR and Sanger sequencing.@*RESULTS@#The patient has conformed to the typical pattern of DSH and manifested with hyperpigmentation, hypo- and hyperpigmentation spots on the back of hands, feet and face. Sanger sequencing confirmed that the proband and his mother have both harbored heterozygous splicing variant c.2762+1G>T in exon 9 of the ADAR gene, which was unreported previously. The same variant was not detected among 100 healthy controls. According to the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PM2+PP4).@*CONCLUSION@#The c.2762+1G>T variant of the ADAR gene probably underlay the DSH in this pedigree. Above finding has enriched the spectrum of ADAR gene mutations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Transtornos da Pigmentação
/
Adenosina Desaminase
/
China
/
Proteínas de Ligação a RNA
/
Mutação
Tipo de estudo:
Guia de Prática Clínica
/
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2022
Tipo de documento:
Artigo
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