A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

We have studied 36 subjects in a large multigenerational Chinese family that is segregating for an autosomal dominant adult onset form of progressive non-syndromic hearing loss. All affected subjects had bilateral sensorineural hearing loss involving all frequencies with some significant gender diff...

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Bibliographic Details
Published in:Journal of medical genetics 2002-08, Vol.39 (8), p.567-570
Main Authors: Blanton, S H, Liang, C Y, Cai, M W, Pandya, A, Du, L L, Landa, B, Mummalanni, S, Li, K S, Chen, Z Y, Qin, X N, Liu, Y F, Balkany, T, Nance, W E, Liu, X Z
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Biological and medical sciences
Carrier Proteins - genetics
Child
Chromosome Mapping - methods
Chromosomes
Chromosomes, Human, Pair 12 - genetics
Deafness
Deafness - genetics
DFNA41
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Ears & hearing
Families & family life
Female
Genes, Dominant - genetics
Genetic Linkage - genetics
Genetic Markers - genetics
genetics
Haplotypes
Hearing loss
Hearing protection
Humans
linkage analysis
Male
Males
Medical sciences
Middle Aged
Mutation
Myosin Heavy Chains
Myosin Type II
Noise
Non tumoral diseases
non-syndromic hearing loss
Otorhinolaryngology. Stomatology
Pedigree
Polymorphism, Genetic - genetics
Short Report
Studies
Syndrome
Tropical medicine
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Summary:We have studied 36 subjects in a large multigenerational Chinese family that is segregating for an autosomal dominant adult onset form of progressive non-syndromic hearing loss. All affected subjects had bilateral sensorineural hearing loss involving all frequencies with some significant gender differences in initial presentation. After excluding linkage to known loci for non-syndromic deafness, we used the Center for Inherited Disease Research (CIDR) to test for 351 polymorphic markers distributed at approximately 10 cM intervals throughout the genome. Analysis of the resulting data provided evidence that the locus designated DFNA41 maps to a 15 cM region on chromosome 12q24.32-qter, proximal to the marker D12S1609. A maximum two point lod score of 6.56 at θ=0.0 was obtained for D12S343. This gene is distal to DFNA25, a previously identified locus for dominant adult onset hearing loss that maps to 12q21-24. Positional/functional candidate genes in this region include frizzled 10, epimorphin, RAN, and ZFOC1.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.39.8.567