In:
Journal of Translational Medicine, Springer Science and Business Media LLC, Vol. 10, No. 1 ( 2012-12)
Abstract:
Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin, are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some Asian populations. SLC26A4 c.919-2A 〉 G (IVS7-2A 〉 G) is the most common mutation in East Asian deaf populations. To provide a basis for improving the clinical diagnosis of deaf patients, we evaluated 80 patients with the SLC26A4 c.919-2A 〉 G monoallelic mutation from 1065 hearing-impaired subjects and reported the occurrence of a second mutant allele in these patients. Methods The occurrence of a second mutant allele in these 80 patients with a single c.919-2A 〉 G mutation was investigated. Mutation screening was performed by bidirectional sequencing in SLC26A4 exons 2 to 6 and 9 to 21. Results We found that 47/80 patients carried another SLC26A4 c.919-2A 〉 G compound mutation. The five most common mutations were: p.H723R, p.T410M, 15+5G 〉 A (c.1705+5G 〉 A), p.L676Q and p.N392Y. We found a Chinese-specific SLC26A4 mutation spectrum and an associated SLC26A4 contribution to deafness. Conclusion Our study illustrates that mutation analysis of other SLC26A4 exons should be undertaken in deaf patients with a single heterozygous SLC26A4 mutation. Moreover, a model of compound heterozygosity may partially explain the disease phenotype.
Type of Medium:
Online Resource
ISSN:
1479-5876
DOI:
10.1186/1479-5876-10-225
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2012
detail.hit.zdb_id:
2118570-0
