SLC26A4 mutations in a Chinese deafness family discovered by next-generation sequencing technology
10.3760/cma.j.issn.1673-0860.2012.11.014
- VernacularTitle:采用第二代测序技术发现一个中国耳聋家庭SLC26A4基因突变
- Author:
Jun MAO
1
;
Xiao-Ming WEI
;
Hong LI
;
San-Nan WANG
;
Ying CHEN
Author Information
1. 南京医科大学附属苏州医院生殖与遗传中心
- Keywords:
Hearing loss;
Membrane transport proteins;
DNA mutational analysis
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2012;47(11):942-945
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the molecular etiopathogenesis for a non-syndromic hearing loss patient.Methods The core family,consisted of the patient and his parents,was recruited.Genomic DNA was extracted from peripheral blood.Mutation analysis was carried out by SNaPshot and next-generation sequencing technology.Mutations in SLC26A4 gene were verified by polymerase chain reaction and direct sequencing.Results Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 in SLC26A4gene were detected in the patient,heterozygous mutation p.V306GfsX24 was detected in the father,heterozygous mutation p.P516PfsX11 was detected in the mother.Conclusions Compound heterozygous mutations p.V306GfsX24 and p.P516PfsX11 contributed to patient's hearing loss.Next-generation sequencing technology is a useful tool for detecting de novo mutations of deafness genes,and is clinical applicable.
