Article
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
Journal of translational medicine - 14 Nov 2012
Li Qi, Zhu Qing-wen, Yuan Yong-yi, Huang Sha-sha, Han Dong-yi, Huang De-liang, Dai Pu
Abstract excerpt
BACKGROUND: 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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.