Conflict of interest: none.
Confirmation of GRHL2 as the gene for the DFNA28 locus
Article first published online: 27 JUN 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 8, pages 2060–2065, August 2013
How to Cite
2013. Confirmation of GRHL2 as the gene for the DFNA28 locus. Am J Med Genet Part A. 161A:2060–2065., , , , .
- Issue published online: 24 JUL 2013
- Article first published online: 27 JUN 2013
- Manuscript Accepted: 14 APR 2013
- Manuscript Received: 14 FEB 2013
- German Research Foundation. Grant Number: HA 1374/7-2
- autosomal dominant hearing impairment;
- postlingual hearing impairment;
- progressive hearing loss
More than 10 years ago, a c.1609_1610insC mutation in the grainyhead-like 2 (GRHL2) gene was identified in a large family with nonsyndromic sensorineural hearing loss, so far presenting the only evidence for GRHL2 being an autosomal-dominant deafness gene (DFNA28). Here, we report on a second large family, in which post-lingual hearing loss with a highly variable age of onset and progression segregated with a heterozygous non-classical splice site mutation in GRHL2. The c.1258-1G>A mutation disrupts the acceptor recognition sequence of intron 9, creating a new AG splice site, which is shifted by only one nucleotide in the 3′ direction. cDNA analysis confirmed a p.Gly420Glufs*111 frameshift mutation in exon 10. © 2013 Wiley Periodicals, Inc.