Confirmation of GRHL2 as the gene for the DFNA28 locus
Open Access
- 27 June 2013
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 161 (8) , 2060-2065
Abstract
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.Keywords
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