Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness
10.3760/cma.j.cn115330-20190907-00564
- VernacularTitle:两个耳聋家系 TMPRSS3基因突变分析及产前诊断
- Author:
Shumin REN
1
;
Qinghua WU
;
Chen CHEN
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心 450052
- Keywords:
Deafness;
Prenatal diagnosis;
Next generation sequencing;
TMPRSS3
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2020;55(4):344-349
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To detect potential mutations in two Chinese families affected with deafness, so as provide prenatal diagnosis for them.Methods:Two Chinese families affected with deafness were identified at the genetic and prenatal diagnosis center of the First Affiliated Hospital of Zhengzhou University from March 2018 to December 2018.Mutation analyses were carried out by next generation sequencing (NGS),suspected mutations were verified by Sanger sequencing in the probands, unaffected relatives. Prenatal diagnosis for high-risk fetus were carried out through Sanger sequencing.Results:The proband of family 1 carried a c.432delA and a c.617-2_617-1insTC mutation of the TMPRSS3 gene, the proband of family 2 carried a c.271C>T(p.R91X) and a c.147dupTmutation ofthe TMPRSS3 gene, both parents of the two probands were carriers of heterozygous variants. Conclusions:Mutations in the TMPRSS3 gene are the suspected cause of deafness in two families. Application of next generation sequencing technologies make gene diagnosis of deafness efficiently and accurately and the molecular findings increase our understanding of the function of TMPRSS3 gene and enrich the human gene mutation database. It is helpful for recurrent genetic counseling and prenatal diagnosis for these families.
