Confirmation of GRHL2 as the gene for the DFNA28 locus.
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ABSTRACT:
SUBMITTER: Vona B
PROVIDER: S-EPMC3884766 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Publications
Confirmation of GRHL2 as the gene for the DFNA28 locus.
Vona Barbara B Nanda Indrajit I Neuner Cordula C Müller Tobias T Haaf Thomas T
American journal of medical genetics. Part A 20130627 8
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 disr ...[more]
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