Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 374-377, 2022.
Artigo
em Chinês
| WPRIM
| ID: wpr-928422
ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a Chinese pedigree suspected for branchiootic syndrome (BOS).@*METHODS@#The proband was subjected to target-capture high-throughput sequencing to detect potential variant of deafness-associated genes. Candidate variants were verified by Sanger sequencing of the family members.@*RESULTS@#The proband was found to harbor a c.1627C>T (p.Gln543Ter) nonsense variant of the EYA1 gene. Sanger sequencing confirmed that all of the 4 patients with the BOS phenotype from the pedigree have harbored the same heterozygous variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS+PP3+PP4).@*CONCLUSION@#The c.1627C>T (p.Gln543Ter) variant of the EYA1 gene probably underlay the BOS phenotype in this pedigree. Above finding has provided a basis for its clinical diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Proteínas Nucleares
/
China
/
Proteínas Tirosina Fosfatases
/
Síndrome Brânquio-Otorrenal
/
Peptídeos e Proteínas de Sinalização Intracelular
/
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
Similares
MEDLINE
...
LILACS
LIS