Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2 cM region, and exclusion of a candidate gene that is expressed in the cochlea

Lut Laer; Guy Van Camp; D Zuylen; E. D Green; M Verstreken; I Schatteman; P Van de Heyning; Wendy Balemans; P Coucke; J. H Greinwald; R. J. H Smith; E Huizing; P. J Willems

doi:10.1159/000484798

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Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2 cM region, and exclusion of a candidate gene that is expressed in the cochlea

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Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2 cM region, and exclusion of a candidate gene that is expressed in the cochlea

Lut Laer, Guy Van Camp, D Zuylen, E. D Green, M Verstreken, I Schatteman, P Van de Heyning, Wendy Balemans, P Coucke, J. H Greinwald, …

European journal of human genetics, Vol.5(6), pp.397-405

01/01/1997

DOI: 10.1159/000484798

PMID: 9450185

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Abstract

A gene for an autosomal dominant form of progressive sensorineural hearing loss (DFNA5) was previously assigned by us to a 15-cM region on chromosome 7p15. In this study, the DFNA5 candidate region was refined to less than 2 cM, and completely cloned in a YAC contig. The HOXA1 gene located in 7p15 was considered to be a good candidate gene for DFNA5 as it harbours mutations leading to developmental defects of the inner ear in mice. However, the refinement of the candidate region of DFNA5 excludes the HOXA1 gene as a candidate for DFNA5. We cloned a novel candidate gene (CG1, candidate gene 1), which is expressed in human fetal cochlea, from the DFNA5 candidate region. The complete cDNA sequence of CG1, encoding a 423 amino acid protein of unknown function, was determined. Mutation analysis of the CG1 gene in DFNA5 patients, however, could not reveal a disease-causing mutation.

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Title: Subtitle: Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2 cM region, and exclusion of a candidate gene that is expressed in the cochlea
Creators: Lut Laer
Guy Van Camp
D Zuylen
E. D Green
M Verstreken
I Schatteman
P Van de Heyning
Wendy Balemans
P Coucke
J. H Greinwald
R. J. H Smith
E Huizing
P. J Willems
Resource Type: Journal article
Publication Details: European journal of human genetics, Vol.5(6), pp.397-405
DOI: 10.1159/000484798
PMID: 9450185
NLM abbreviation: Eur J Hum Genet
ISSN: 1018-4813
eISSN: 1476-5438
Language: English
Date published: 01/01/1997
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006460802771

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