Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Hum Genome Var
; 4: 17027, 2017.
Article
en En
| MEDLINE
| ID: mdl-28690861
ABSTRACT
Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods.
Texto completo:
1
Banco de datos:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Año:
2017
Tipo del documento:
Article
País de afiliación:
China