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A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
Journal article   Open access   Peer reviewed

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p

M R Brown, M S Tomek, L Van Laer, S Smith, J B Kenyon, G Van Camp and R J Smith
American journal of human genetics, Vol.61(4), pp.924-927
10/1997
DOI: 10.1086/514892
PMCID: PMC1715982
PMID: 9382104
url
https://doi.org/10.1086/514892View
Published (Version of record) Open Access

Abstract

Nonsyndromic hearing loss (NSHL) is the most common type of hearing impairment in the elderly. Environmental and hereditary factors play an etiologic role, although the relative contribution of each is unknown. To date, 39 NSHL genes have been localized. Twelve produce autosomal dominant hearing loss, most frequently postlingual in onset and progressive in nature. We have ascertained a large, multigenerational family in which a gene for autosomal dominant NSHL is segregating. Affected individuals experience progressive hearing loss beginning in the 2d-4th decades, eventually making the use of amplification mandatory. A novel locus, DFNA13, was identified on chromosome 6p; the disease gene maps to a 4-cM interval flanked by D6S1663 and D6S1691, with a maximum two-point LOD score of 6.409 at D6S299.
United States Humans Male Chromosome Mapping Hearing Loss, Sensorineural - genetics Genetic Markers Chromosomes, Human, Pair 6 Europe - ethnology Lod Score Pedigree Adolescent Age of Onset Adult Female Aged

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