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Confirmation of GRHL2 as the gene for the DFNA28 locus
Author(s) -
Vona Barbara,
Nanda Indrajit,
Neuner Cordula,
Müller Tobias,
Haaf Thomas
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36017
Subject(s) - locus (genetics) , gene , genetics , biology
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. © 2013 Wiley Periodicals, Inc.