Confirmation of GRHL2 as the gene for the DFNA28 locus.

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.

• Authors: Barbara Vona, Indrajit Nanda, Cordula Neuner, Tobias Müller, Thomas Haaf
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 161A Issue 8 Pg. 2060-5 (Aug 2013) ISSN: 1552-4833 [Electronic] United States
• PMID: 23813623 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Wiley Periodicals, Inc.

Chemical References

• DNA-Binding Proteins
• GRHL2 protein, human
• Transcription Factors
• DNA

Topics

• Adult
• Aged
• Amino Acid Sequence
• Base Sequence
• DNA (analysis, genetics)
• DNA-Binding Proteins (genetics)
• Female
• Frameshift Mutation (genetics)
• Genes, Dominant
• Hearing Loss, Sensorineural (diagnosis, genetics)
• Humans
• Male
• Middle Aged
• Molecular Sequence Data
• Pedigree
• Polymerase Chain Reaction
• Transcription Factors (genetics)