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Literature DB >> 8595423

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

M M Lesperance¹, J W Hall, F H Bess, K Fukushima, P K Jain, B Ploplis, T B San Agustin, H Skarka, R J Smith, M Wills.

Abstract

Mapping genes for nonsyndromic hereditary hearing impairment may lead to identification of genes that are essential for the development and preservation of hearing. We studied a family with autosomal dominant, progressive, low frequency sensorineural hearing loss. Linkage analysis employing microsatellite polymorphic markers revealed a fully linked marker (D4S126) at 4p16.3, a gene-rich region containing IT15, the gene for Huntington's disease (HD). For D4S126, the logarithm-of-odds (lod) score was 3.64 at theta = 0, and the overall maximum lod score was 5.05 at theta = 0.05 for D4S412. Analysis of recombinant individuals maps the disease gene to a 1.7 million base pair (Mb) region between D4S412 and D4S432. Genes for two types of mutant mice with abnormal cochleovestibular function, tilted (tlt) and Bronx waltzer (bv), have been mapped to the syntenic region of human 4p16.3 on mouse chromosome 5. Further studies with the goals of cloning a gene for autosomal nonsyndromic hearing impairment and identifying the murine homologue may explain the role of this gene in the development and function of the cochlea.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：
Genetic Markers

Year: 1995 PMID： 8595423 DOI： 10.1093/hmg/4.10.1967

Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150

Keyword Cloud
Cited

14 in total

1. A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Authors: K Fukushima; N Kasai; Y Ueki; K Nishizaki; K Sugata; S Hirakawa; A Masuda; M Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; G Van Camp; R J Smith
Journal: Am J Hum Genet Date: 1999-07 Impact factor: 11.025

2. DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.

Authors: C C Greene; P M McMillan; S E Barker; P Kurnool; M I Lomax; M Burmeister; M M Lesperance
Journal: Am J Hum Genet Date: 2000-12-11 Impact factor: 11.025

3. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Authors: I N Bespalova; G Van Camp; S J Bom; D J Brown; K Cryns; A T DeWan; A E Erson; K Flothmann; H P Kunst; P Kurnool; T A Sivakumaran; C W Cremers; S M Leal; M Burmeister; M M Lesperance
Journal: Hum Mol Genet Date: 2001-10-15 Impact factor: 6.150

Review 4. Nonsyndromic hearing impairment: unparalleled heterogeneity.

Authors: G Van Camp; P J Willems; R J Smith
Journal: Am J Hum Genet Date: 1997-04 Impact factor: 11.025

5. A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

Authors: G Van Camp; H Kunst; K Flothmann; W McGuirt; J Wauters; H Marres; M Verstreken; I N Bespalova; M Burmeister; P H Van de Heyning; R J Smith; P J Willems; C W Cremers; M M Lesperance
Journal: J Med Genet Date: 1999-07 Impact factor: 6.318

6. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.

Authors: Marci M Lesperance; James W Hall; Theresa B San Agustin; Suzanne M Leal
Journal: Arch Otolaryngol Head Neck Surg Date: 2003-04

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

1. A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

2. DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.

3. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Review 4. Nonsyndromic hearing impairment: unparalleled heterogeneity.

5. A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

6. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.

7. DFNA54, a third locus for low-frequency hearing loss.

8. Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.

9. [Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].

10. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.