How to Cite this Article: Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O. 2011. A deleterious mutation in the OXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Am J Med Genet Part A 155:1170–1172.
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews†
Article first published online: 4 APR 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 5, pages 1170–1172, May 2011
How to Cite
Edvardson, S., Jalas, C., Shaag, A., Zenvirt, S., Landau, C., Lerer, I. and Elpeleg, O. (2011), A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Am. J. Med. Genet., 155: 1170–1172. doi: 10.1002/ajmg.a.33972
- Issue published online: 19 APR 2011
- Article first published online: 4 APR 2011
- Manuscript Accepted: 7 FEB 2011
- Manuscript Received: 16 AUG 2010
- hearing loss;
Autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) in Ashkenazi Jews, is mainly caused by mutations in the GJB2 and GJB6 genes. Here we describe a novel homozygous mutation of the LOXHD1 gene resulting in a premature stop codon (R1572X) in nine patients of Ashkenazi Jewish origin who had severe-profound congenital non-progressive ARNSHL and benefited from cochlear implants. Upon screening for the mutation among 719 anonymous Ashkenazi-Jews we detected four carriers, indicating a carrier rate of 1:180 Ashkenazi Jews. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community. © 2011 Wiley-Liss, Inc.