You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

5 Aug, 17 | by hqqu

Two mutated copies of the SLC26A4 gene are associated with Pendred syndrome, comprised of bilateral hearing loss with enlargement of the vestibular aqueduct (EVA) and thyroid goiter.  Other EVA patients have a normal thyroid gland and only one mutated copy of SLC26A4.  Our study identified the same combination, or haplotype, of noncoding sequence variants upstream of the non-mutated copy of SLC26A4 in most of these nonsydromic EVA patients.  This haplotype defines the most common allele associated with hereditary hearing loss in Caucasians.  Testing for this haplotype will facilitate the genetic and prognostic counseling of many patients with EVA. (By Dr. Andrew J Griffith, http://jmg.bmj.com/content/early/2017/08/05/jmedgenet-2017-104721 )

(Source: https://www.nidcd.nih.gov/health/enlarged-vestibular-aqueducts-and-childhood-hearing-loss )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site



Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics