A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

Background:Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 51 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. Objective:To investigate the genes involved in a Dutch family with NSS...

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Bibliographic Details
Published in:Journal of medical genetics 2004-01, Vol.41 (1), p.11-13
Main Authors: Snoeckx, R L, Kremer, H, Ensink, R J H, Flothmann, K, de Brouwer, A, Smith, R J H, Cremers, C W R J, Van Camp, G
Format: Article
Language:English
Subjects:
Age of Onset
Biological and medical sciences
Child
Child, Preschool
Chromosome Mapping - methods
Chromosomes, Human, Pair 6 - genetics
Deoxyribonucleic acid
DFNA31
DNA
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Families & family life
Female
gene localisation
Genes
Genes, Dominant - genetics
Genetic Linkage - genetics
Genetic Markers - genetics
Genetic testing
Genomes
Hearing loss
Hearing Loss, Sensorineural - genetics
Humans
Male
Medical sciences
Mutation
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
Short Report
Syndrome
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Description
Summary:Background:Non-syndromic hearing loss is the most genetically heterogeneous trait known in humans. To date, 51 loci for autosomal dominant non-syndromic sensorineural hearing loss (NSSHL) have been identified by linkage analysis. Objective:To investigate the genes involved in a Dutch family with NSSHL. Methods:Linkage analysis in a large Dutch pedigree with progressive bilateral loss of the mid and high frequencies, in which a novel dominant locus for postlingual NSSHL (DFNA31) has been identified. Results:DFNA31 was found to be located in a 7.5 cM region of chromosome 6p21.3 between D6S276 (telomeric) and D6S273 (centromeric), with a maximum two point LOD score of 5.99 for D6S1624. DNA sequencing of coding regions and exon/intron boundaries of two candidate genes (POU5F1, GABBR1) in this interval did not reveal disease causing mutations. Conclusions:Haplotype analysis indicated that the genetic defect in this family does not overlap the DFNA13 and DFNA21 regions that are also located on 6p. Identification of the disease gene will be of major importance in understanding the pathophysiology of hearing impairment.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.2003.010702