Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2022, Vol. 36 ›› Issue (4): 27-34.doi: 10.6040/j.issn.1673-3770.0.2022.190

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Clinical application of target gene panel testing in genetic diagnosis of deafness

ZHANG Yanhong1, LI Juanjuan1, ZENG Xianhai1, GOU Lingshan2, WANG Zhaoxia1, WEI Jianfang1, MA Fang1, QIU Shuqi1   

  1. 1. Department of Otolaryngology, Longgang E.N.T. Hospital & Shenzhen Key laboratory of E.N.T, Institute of E.N.T, Shenzhen 518172, Guangdong, China;
    2. Center for Genetic Medicine, Xuzhou Maternity and Child Health Care Hospital, Xuzhou 221009, Jiangsu, China
  • Online:2022-07-20 Published:2022-07-11

Abstract: Objective This study aimed to explore the application of the deafness gene panel in the genetic analysis of patients with hearing loss. Methods The combination of real-time polymerase chain reaction(PCR)and Sanger sequencing was used to identify the 25 mutations of four common deafness genes in 40 deaf patients. Patients with heterozygous mutations, detected via deafness gene sequencing, underwent further single deafness gene sequencing or target gene panel testing. Those with negative real-time PCR results underwent target gene panel testing. The parents of the 16 patients underwent genetic analysis to identify inherited mutations. Results Among the 40 patients, there were eight patients with a homozygous or compound heterozygous mutation in the GJB2 gene and two patients with a single heterozygous mutation, according to the deafness genetic screening. Moreover, one patient had a homozygous mutation, while two had a single heterozygous mutation in the SLC26A4 gene. The four patients with single heterozygous mutations underwent further single deafness gene sequencing or target gene panel testing. Two patients had the compound heterozygous mutation, GJB2 c.235delC/c.610delC or c.235delC/c.109G>A. Meanwhile, two patients had SLC26A4 c.919-2A>G/c.1548_1549insC. Among the 27 patients with negative real-time PCR results, there were four patients with the homozygous mutation, GJB2 c.109G>A, one patient with c.571T>C/c.G109A, one patient with MYO7A c.397dupC/c.3484A>T, one patient with MYO15A c.4779+2T>C/c.5008-2A>G, and one patient with the heterozygous mutation, ACTG1 c.118C>T, based on target gene panel testing. Additionally, there were two patients with the compound heterozygous mutations, CDH23 c.1765G>A/c.6504T>A and c.6049G>A/c.7225-1G>A, respectively. Among the 16 patients, 15 inherited the deafness genetic mutations from their parents, according to the genetic analysis. Conclusion The deafness gene panel improved the genetic diagnostic rate among deaf patients with negative results of hotspot deafness gene mutations.

Key words: Deafness, GJB2 gene, SLC26A4 gene, MYO7A gene, Deafness gene panel

CLC Number: 

  • R764.43
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