Linkage of a gene for dominant non-syndromic deafness to chromosome 19

A H Chen; L Ni; K Fukushima; J Marietta; M O'Neill; P Coucke; P Willems; R J Smith

doi:10.1093/hmg/4.6.1073

Linkage of a gene for dominant non-syndromic deafness to chromosome 19

Hum Mol Genet. 1995 Jun;4(6):1073-6. doi: 10.1093/hmg/4.6.1073.

Authors

A H Chen¹, L Ni, K Fukushima, J Marietta, M O'Neill, P Coucke, P Willems, R J Smith

Affiliation

¹ Department of Otolaryngology, University of Iowa, Iowa City 52242, USA.

PMID: 7655461
DOI: 10.1093/hmg/4.6.1073

Abstract

Inherited hearing impairment can occur either in the presence of other clinical features (syndromic hearing loss, SHL) or in isolation (non-syndromic hearing loss, NSHL). The latter is more common and is highly heterogeneous. To date, six NSHL loci have been mapped. We report the identification of a seventh locus (DFNA4) on chromosome 19q13 and suggest DM kinase as a possible candidate gene.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Mapping
Chromosomes, Human, Pair 19*
Deafness / genetics*
Female
Genes, Dominant
Genetic Linkage*
Humans
Male
Myotonin-Protein Kinase
Pedigree
Protein Serine-Threonine Kinases / genetics

Substances

DMPK protein, human
Myotonin-Protein Kinase
Protein Serine-Threonine Kinases