Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.
J Hum Genet
; 61(10): 907-910, 2016 Oct.
Article
em En
| MEDLINE
| ID: mdl-27305983
ABSTRACT
Polydactyly is a clinically and genetically heterogeneous disorder. In the current report, we present a five-generation Chinese family with non-syndromic pre-axial polydactyly with thumb polydactyly (pre-axial polydactyly type I (PPD-I)) as a major clinical feature. Using whole-exome sequencing (WES), a novel nonsense mutation c.714T>A (p.Y238*) of the glioma-associated oncogene family zinc-finger 3 gene (GLI3) was identified as the pathogenic mutation for this family. Our study has, for the first time, suggested the possible contribution of GLI3 in the patheogenesis of PPD-I, and demonstrated that WES provided an applicable diagnostic tool for identifying mutations in disorders with highly genetical heterogeneity such as polydactyly.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polegar
/
Polidactilia
/
Códon sem Sentido
/
Fatores de Transcrição Kruppel-Like
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
China