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

Jiahui Xia, Hao Deng, Yong Feng, Huali Zhang, Qian Pan, Heping Dai, Zhigao Long, Beisha Tang, Hanxiang Deng, Yong Chen, Ruifang Zhang, Duo Zheng, Yungui He, Kun Xia*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)635-640
Number of pages6
JournalJournal of Human Genetics
Volume47
Issue number12
DOIs
StatePublished - 2002

Keywords

  • Autosomal dominant nonsyndromic hearing loss
  • DFNA42
  • Heterogeneous disorder
  • Linkage analysis
  • Logarithm of differences (LOD) score

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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