Application of next generation sequencing and Sanger sequencing in a pedigree affected with hereditary non-syndromic deafness.
10.3760/cma.j.issn.1003-9406.2018.06.021
- Author:
Shumin REN
1
;
Xiangdong KONG
;
Huirong SHI
Author Information
1. The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan 450000, China. shihuirong2017@126.com.
- Publication Type:Journal Article
- MeSH:
Connexins;
genetics;
DNA Mutational Analysis;
Female;
Hearing Loss, Sensorineural;
genetics;
High-Throughput Nucleotide Sequencing;
Humans;
Membrane Proteins;
genetics;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2018;35(6):864-867
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential mutation in a pedigree affected with autosomal recessive non-syndromic deafness.
METHODS:Mutation analysis was carried out by next generation sequencing, and suspected mutations were verified by Sanger sequencing.
RESULTS:A heterozygous c.235delC mutation of the GJB2 gene, together with compound heterozygous mutations of the OTOF gene [c.1194T>A (p.D398E) and c.2180A>G (p.N727S)] were detected in the proband. The sister of the proband (also had hearing loss) has carried a heterozygous c.235delC mutation in the GJB2 gene, in addition with a heterozygous c.2180A>G(p.N727S) mutation of the OTOF gene. By Sanger sequencing, a heterozygous IVS1+2T>A mutation was further detected in the non-coding region of the GJB2 gene in both sisters.
CONCLUSION:The compound heterozygous c.235delC and IVS1+2T>A mutations of the GJB2 gene probably account for the hearing loss in the two sisters, among which IVS1+2T>A is considered as a novel pathogenic mutation of the GJB2 gene.
