[Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong].

Abstract

OBJECTIVE:

To explore the characteristics of mutations of four common pathogenic genes (GJB2, SLC26A4, GJB3 and 12S rRNA) among patients with nonsyndromic hearing loss (NSHL) from eastern Shandong.

METHODS:

Peripheral blood samples of 420 NSHL patients were collected, and a hereditary-deafness-gene microarray was used to detect GJB2 c.235delC, c.299-300delAT, c.35delG and c.176del16 mutations, GJB3 c.538C>T mutation, SLC26A4 c.2168A>G and c.IVS7-2A>G mutations, and 12S rRNA c.1555A>C and c.1494C>T mutations. For patients carrying single heterozygous mutations, the coding regions of the above genes were analyzed with Sanger sequencing.

RESULTS:

The results of the microarray assay and Sanger sequencing showed that 84 patients (20.00%) carried GJB2 mutations, with c.235delC (16.43%) and c.299-300delAT (7.86%) being most common. Seventy-five patients (17.86%) carried SLC26A4 mutations, for which c.IVS7-2A>G accounted for 15.71%. In addition, 5.95% of patients carried 12S rRNA mutations. Only one patient was found to carried GJB3 mutation (c.538C>T).

CONCLUSION:

Common pathogenic mutations for NSHL in eastern Shandong included GJB2 c.235delC and SLC26A4 c.IVS7-2A>G. Of note, 5.95% of patients were due to 12S rRNA m.1555A>G mutation, which gave a frequency greater than other regions of China.

• Authors: Shiyu Sun, Linyuan Niu, Jinjun Tian, Wei Chen, Yanna Li, Ningning Xia, Caining Jyu, Xiaoli Chen, Chunxiao Zhang, Xinqiang Lan
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 36 Issue 5 Pg. 433-438 (May 10 2019) ISSN: 1003-9406 [Print] China
• PMID: 31030427 (Publication Type: Journal Article)

Chemical References

• Connexins
• DNA, Mitochondrial
• RNA, Ribosomal
• RNA, ribosomal, 12S
• SLC26A4 protein, human
• Sulfate Transporters
• Connexin 26
• GJB3 protein, human

Topics

• China
• Connexin 26
• Connexins
• DNA Mutational Analysis
• DNA, Mitochondrial
• Deafness
• Genes, rRNA
• Hearing Loss
• Humans
• Mutation
• RNA, Ribosomal
• Sulfate Transporters