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

被引:0
|
作者
Silvia Modamio-Høybjør
Miguel Moreno-Pelayo
Angeles Mencía
Ignacio del Castillo
Sebastian Chardenoux
Daniel Armenta
Mark Lathrop
Christine Petit
Felipe Moreno
机构
[1] Unidad de Genética Molecular,
[2] Hospital Ramón y Cajal,undefined
[3] Carretera de Colmenar Km 9,undefined
[4] 28034,undefined
[5] Madrid,undefined
[6] Spain,undefined
[7] Unité de Genetique des Déficits Sensoriels,undefined
[8] CNRS URA 1968,undefined
[9] Institut Pasteur,undefined
[10] Paris,undefined
[11] France,undefined
[12] Unidad de Genética,undefined
[13] Hospital Universitario "Puerta del Mar",undefined
[14] Cadiz,undefined
[15] Spain,undefined
[16] Centre National de Genotypage,undefined
[17] Evry,undefined
[18] France,undefined
来源
Human Genetics | 2003年 / 112卷
关键词
Hearing Loss; Sensorineural Hearing; Sensorineural Hearing Loss; Autosomal Dominant Inheritance; Affected Family;
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中图分类号
学科分类号
摘要
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 θ=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.
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页码:24 / 28
页数:4
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