Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China

Yikang Xiong; Meihuan Chen; Haiwei Wang; Lingji Chen; Hailong Huang; Liangpu Xu

doi:10.1016/j.ijporl.2023.111777

Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China

Int J Pediatr Otorhinolaryngol. 2024 Jan:176:111777. doi: 10.1016/j.ijporl.2023.111777. Epub 2023 Nov 21.

Authors

Yikang Xiong¹, Meihuan Chen², Haiwei Wang², Lingji Chen², Hailong Huang³, Liangpu Xu⁴

Affiliations

¹ The Frist Department of Clinical Medicine, Fujian University of Traditional Chinese Medicine, Fuzhou, 350122, Fujian Province, China.
² Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, China.
³ Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, China. Electronic address: huanghailong@fjmu.edu.cn.
⁴ The Frist Department of Clinical Medicine, Fujian University of Traditional Chinese Medicine, Fuzhou, 350122, Fujian Province, China; Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, 350001, Fujian Province, China. Electronic address: Xiliangpu@fjmu.edu.cn.

PMID: 38029595
DOI: 10.1016/j.ijporl.2023.111777

Abstract

Objectives: The molecular etiology of non-syndromic hearing loss (NSHL) in Southeastern China (Fujian) has not been precisely identified. our study selected patients with NSHL and analyzed their causative genes, which helped to improve the accuracy of the diagnosis of hereditary hearing loss (HHL) and its treatment.

Methods: 251 unrelated patients who attended the otolaryngology clinic of Fujian Maternal and Child Health Hospital with hearing loss were enrolled to our study. All patients had genetic tests and listening tests, of which 251 were diagnosed with NSHL. In addition, we used whole-exome sequencing (WES) in a patient who has a significant family history of HHL but negative for gene chip testing, as well as in his family members.

Result: Among of 251 patients, Nucleotide changes were found in 63 cases (25.09%), including 34 located in GJB2(13.5%, including 235delC and 299_300delAT), 13 located in SLC26A4(5.18%, including c.919-2G > A and 2168 A > G), 1 located in GJB3(0.4%,538C > T) and 16 located in mtDNA12SrRNA (6.37%,1555 A > G). In addition, we discuss the process of identifying novel PLS1 mutations from 251 patients.

Conclusion: Our results demonstrate the conventional deafness gene mutation in 251 NSHL patients in Fujian, China. Compared with the other area of China, we have a lower detection rate, but GJB2 235delC remains the most common mutation in Fujian. In addition, we discuss the process of discovering novel mutation locus for deafness, which provides an understanding for deafness diagnosis and genetic testing.

Keywords: GJB2; Non-syndromic hearing loss; SLC26A4; mtDNA12SrRNA.

MeSH terms

Child
China
Connexin 26 / genetics
Connexins / genetics
DNA Mutational Analysis
Deafness* / diagnosis
Deafness* / genetics
Hearing Loss* / diagnosis
Hearing Loss* / genetics
Hearing Loss, Sensorineural* / genetics
Humans
Mutation
Sulfate Transporters / genetics

Substances

Connexin 26
Connexins
GJB3 protein, human
SLC26A4 protein, human
Sulfate Transporters
GJB2 protein, human

Supplementary concepts

Nonsyndromic Deafness