A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

Authors:
  • YFYong Feng
    Yong Feng
  • HZHuali Zhang
    Huali Zhang
  • QPQian Pan
    Qian Pan
  • HDHeping Dai
    Heping Dai
  • ZLZhigao Long
    Zhigao Long
  • BTBeisha Tang
    Beisha Tang
  • YCYong Chen
    Yong Chen
  • RZRuifang Zhang
    Ruifang Zhang
  • DZDuo Zheng
    Duo Zheng
  • YHYungui He
    Yungui He
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Abstract
Hearing impairment is an extremely heterogeneous disorder. A total of 35 loci and 17 related genes for autosomal dominant nonsyndromic hearing loss have been identified. In a Chinese pedigree characterized by autosomal dominant inheritance with bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment, the putative disease gene locus was localized to chromosome 5q31.1-32 by a genome-wide scan. Fine mapping indicated that the disease gene was located within an 8.8-cM region between markers D5S2056 and D5S638, with a maximum two-point logarithm of differences (LOD) score of 6.89 (θ = 0) at D5S2017. By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed. No mutation was found, suggesting that this is a novel deafness locus, which has been named DFNA42.