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Open Access 01-12-2009 | Research

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Authors: Yongyi Yuan, Yiwen You, Deliang Huang, Jinghong Cui, Yong Wang, Qiang Wang, Fei Yu, Dongyang Kang, Huijun Yuan, Dongyi Han, Pu Dai

Published in: Journal of Translational Medicine | Issue 1/2009

Abstract

Background

Every year, 30,000 babies are born with congenital hearing impairment in China. The molecular etiology of hearing impairment in the Chinese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we performed a comprehensive investigation of the molecular etiology of nonsyndromic deafness in two typical areas from northern and southern China.

Methods

A total of 284 unrelated school children with hearing loss who attended special education schools in China were enrolled in this study, 134 from Chifeng City in Inner Mongolia and the remaining 150 from Nangtong City in JiangSu Province. Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNA^ser(UCN)genes in this population. All patients with SLC26A4 mutations or variants were subjected to high-resolution temporal bone CT scan to verify the enlarged vestibular aqueduct.

Results

Mutations in the GJB2 gene accounted for 18.31% of the patients with nonsyndromic hearing loss, 1555A>G mutation in mitochondrial DNA accounted for 1.76%, and SLC26A4 mutations accounted for 13.73%. Almost 50% of the patients with nonsyndromic hearing loss in these typical Chinese areas carried GJB2 or SLC26A4 mutations. No significant differences in mutation spectrum or prevalence of GJB2 and SLC26A4 were found between the two areas.

Conclusion

In this Chinese population, 54.93% of cases with hearing loss were related to genetic factors. The GJB2 gene accounted for the etiology in about 18.31% of the patients with hearing loss, SLC26A4 accounted for about 13.73%, and mtDNA 1555A>G mutation accounted for 1.76%. Mutations in GJB3, GJB6, and mtDNA tRNA^ser(UCN)were not common in this Chinese cohort. Conventionally, screening is performed for GJB2, SLC26A4, and mitochondrial 12S rRNA in the Chinese deaf population.

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Title: Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China
Authors: Yongyi Yuan
Yiwen You
Deliang Huang
Jinghong Cui
Yong Wang
Qiang Wang
Fei Yu
Dongyang Kang
Huijun Yuan
Dongyi Han
Pu Dai
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: Journal of Translational Medicine / Issue 1/2009
Electronic ISSN: 1479-5876
DOI: https://doi.org/10.1186/1479-5876-7-79

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