A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29

Hereditary non-syndromic sensorineural hearing loss (NSSHL) is a genetically highly heterogeneous group of disorders. Autosomal dominant forms account for up to 20% of cases. To date, 39 loci have been identified by linkage analysis of affected families that segregate NSSHL forms in the autosomal do...

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Bibliographic Details
Published in:Human genetics 2003, Vol.112 (1), p.24-28
Main Authors: MODAMIO-HØYBJØR, Silvia, MORENO-PELAYO, Miguel Angel, MENCIA, Angeles, DEL CASTILLO, Ignacio, CHARDENOUX, Sebastian, ARMENTA, Daniel, LATHROP, Mark, PETIT, Christine, MORENO, Felipe
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 3 - genetics
Classical genetics, quantitative genetics, hybrids
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Female
Fundamental and applied biological sciences. Psychology
Genes, Dominant - genetics
Genetics of eukaryotes. Biological and molecular evolution
Haplotypes
Hearing Loss, Sensorineural - genetics
Human
Humans
Male
Medical sciences
Microsatellite Repeats
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
Recombination, Genetic
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Summary:Hereditary non-syndromic sensorineural hearing loss (NSSHL) is a genetically highly heterogeneous group of disorders. Autosomal dominant forms account for up to 20% of cases. To date, 39 loci have been identified by linkage analysis of affected families that segregate NSSHL forms in the autosomal dominant mode (DFNA). Investigation of a large Spanish pedigree with autosomal dominant inheritance of bilateral and progressive NSSHL of postlingual onset excluded linkage to known DFNA loci and, in a subsequent genome-wide scan, the disorder locus was mapped to 3q28-29. A maximum two-point LOD score of 4.36 at theta=0 was obtained for marker D3S1601. Haplotype analysis placed the novel locus, DFNA44, within a 3-cM genetic interval defined by markers D3S1314 and D3S2418. Heteroduplex analysis and DNA sequencing of coding regions and exon/intron boundaries of two genes (CLDN16 and FGF12) in this interval did not reveal disease-causing mutations.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-002-0836-x