Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment |
| |
| Authors: | Kimia Kahrizi Marzieh Mohseni Carla Nishimura Niloofar Bazazzadegan Stephanie M Fischer Atefeh Dehghani Morteza Sayfati Maryam Taghdiri Payman Jamali Richard J H Smith Fereydoun Azizi Hossein Najmabadi |
| |
| Institution: | (1) Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;(2) Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, IA, USA;(3) The Iranian Welfare Organization, Tehran, Iran;(4) Research Institute for Endocrine Science, Shaheed Beheshti University of Medical Sciences, Tehran, Iran |
| |
| Abstract: | Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear
families with two or more siblings segregating presumed autosomal recessive hearing loss. All deaf persons tested negative
for mutations in GJB2 at the DFNB1 locus and were, therefore, screened for autozygosity by descent (ABD) using short tandem repeat polymorphisms (STRPs) that
flanked SLC26A4. In 12 families, homozygosity for STRPs suggested possible ABD in this genomic region. Affected individuals in five families
had a positive perchlorate discharge test. Sequence analysis of SLC26A4 identified ten mutations in eight families (T420I, 1197delT, G334V, R409H, T721M, R79X, S448L, L597S, 965insA and L445W),
of which, four are novel (T420I, G334V, 965insA and R79X). These results imply that Pendred syndrome is the most prevalent
form of syndromic hereditary hearing loss in Iran. |
| |
| Keywords: | DFNB4 SLC26A4 gene Pendred PDS gene IRAN |
| 本文献已被 PubMed SpringerLink 等数据库收录！ |
|
