Application of next generation sequencing for the diagnosis of congenital hearing loss.
10.3760/cma.j.issn.1003-9406.2019.04.003
- Author:
Shumin REN
1
;
Xiangdong KONG
;
Huirong SHI
;
Qinghua WU
;
Ning LIU
Author Information
1. The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China. Email: shihuirong2017@126.com.
- Publication Type:Journal Article
- MeSH:
Connexins;
Deafness;
Hearing Loss, Sensorineural;
High-Throughput Nucleotide Sequencing;
Humans;
Membrane Transport Proteins;
Mutation;
Sulfate Transporters
- From:
Chinese Journal of Medical Genetics
2019;36(4):301-305
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify genetic mutations among patients with hearing loss but without common GJB2, SLC26A4, 12 SrRNA mutations.
METHODS:Thirty-three patients were subjected to next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing.
RESULTS:Four patients were found to harbor previously known pathogenic variations, and four were found to carry suspicious pathogenic variations, which yielded a detection rate of 24.2%.
CONCLUSION:NGS can improve the detection rate for mutations underlying congenital hearing loss and improve the efficiency and accuracy of the diagnosis.
