Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China

Abstract

Background: Although, half of the childhood deafness is genetically related, the molecular etiology of hearing impairment has not been demonstrated explicitly. In addition, the mutation spectrums of deafness genes vary among different areas and ethnics.

Objectives: To know more about the mutation spectrums of deafness genes in China, we tested the mutations of three common deafness genes (GJB2, SLC26A4, and mtDNA12SrRNA) in a particular deafness population from Heze area.

Materials and methods: SNPscan technology was utilized to perform mutation screening for these three common deafness genes in 314 nonsyndromic deaf patients from Heze area.

Results: 38.21% (120/314) of these 314 patients with nonsyndromic hearing loss from Heze area were related to the genetic defects in these three deafness genes, including 20.06% (63/314) for GJB2, 15.29% (48/314) for SLC26A4, and 2.87% (9/314) for mtDNA12SrRNA. Furthermore, the mutation hotspots in three deaf genes were GJB2 235delC, SLC26A4 c.919-2A > G, and mtDNA12SrRNA 1555A > G, respectively, distinct from hotspots reported in other regions worldwide.

Conclusion: Our results disclosed a special and unique mutation spectrum of these three common deaf genes in Heze deaf population.

Chinese abstract

背景：尽管半数儿童耳聋与遗传有关, 但其分子病因尚未明确证实。此外, 不同地区、不同民族的耳聋基因突变谱也不同。

目的：了解中国耳聋基因突变谱, 对菏泽地区某耳聋人群的三种常见耳聋基因（GJB2、 SLC26A4 和 mtDNA12SrRNA ）进行突变检测。

材料与方法：采用单核苷酸多态性扫描技术对菏泽地区314例非综合性聋患者的三种常见耳聋基因进行突变检测。

结果：菏泽地区314例非综合征性耳聋患者中, 38.21%（120/314）与三种耳聋基因缺陷有关, 其中GJB2基因占20.06%（63/314）, SLC26A4 占15.29%（48/314）, mtDNA12SrRNA 占2.87%（9/314）。此外, 三种耳聋基因的突变热点分别为235delC、c.919-2A > G和1555A > G, 与世界其他地区报道的热点不同。

结论：我们的研究结果揭示了在菏泽聋人群体中这三种常见聋人基因的独特突变谱。

Keywords:

• Nonsyndromic deafness
• mutation spectrum
• hotspots
• Heze area

Acknowledgements

We thank all family members for participating in this study.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This work was supported by grants from the National Natural Science Foundation of China (81670942, 81470704, 81670932), the National Natural Science Foundation of Shandong Province (ZR2016QZ007), and the Key Project of Shandong Provincial Programs for Research and Development (2017CXGC1213).