Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China
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Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China Yongyi Yuan†1, Yiwen You†2, Deliang Huang†1, Jinghong Cui2, Yong Wang2, Qiang Wang2, Fei Yu1, Dongyang Kang1, Huijun Yuan1, Dongyi Han*1 and Pu Dai*1 Address: 1Department of Otolaryngology, PLA General Hospital, Beijing, PR China and 2Department of Otolaryngology, Affiliated hospital of Nantong University, Nantong, Jiangsu Province, 226001, PR China Email: Yongyi Yuan - [email protected]; Yiwen You - [email protected]; Deliang Huang - [email protected]; Jinghong Cui - [email protected]; Yong Wang - [email protected]; Qiang Wang - [email protected]; Fei Yu - [email protected]; Dongyang Kang - [email protected]; Huijun Yuan - [email protected]; Dongyi Han* - [email protected]; Pu Dai* - [email protected] * Corresponding authors †Equal contributors
Published: 10 September 2009 Journal of Translational Medicine 2009, 7:79
doi:10.1186/1479-5876-7-79
Received: 6 April 2009 Accepted: 10 September 2009
This article is available from: http://www.translational-medicine.com/content/7/1/79 © 2009 Yuan et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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 tRNAser(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, S
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