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

doi:10.1007/s100380200098

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

Neurology

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	635-640
Number of pages	6
Journal	Journal of Human Genetics
Volume	47
Issue number	12
DOIs	https://doi.org/10.1007/s100380200098
State	Published - 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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Xia, Jiahui ; Deng, Hao ; Feng, Yong ; Zhang, Huali ; Pan, Qian ; Dai, Heping ; Long, Zhigao ; Tang, Beisha ; Deng, Hanxiang ; Chen, Yong ; Zhang, Ruifang ; Zheng, Duo ; He, Yungui ; Xia, Kun. / A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. In: Journal of Human Genetics. 2002 ; Vol. 47, No. 12. pp. 635-640.

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

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.",

keywords = "Autosomal dominant nonsyndromic hearing loss, DFNA42, Heterogeneous disorder, Linkage analysis, Logarithm of differences (LOD) score",

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

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A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. / Xia, Jiahui; Deng, Hao; Feng, Yong; Zhang, Huali; Pan, Qian; Dai, Heping; Long, Zhigao; Tang, Beisha; Deng, Hanxiang; Chen, Yong; Zhang, Ruifang; Zheng, Duo; He, Yungui; Xia, Kun.

In: Journal of Human Genetics, Vol. 47, No. 12, 2002, p. 635-640.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

AU - Xia, Jiahui

AU - Deng, Hao

AU - Feng, Yong

AU - Zhang, Huali

AU - Pan, Qian

AU - Dai, Heping

AU - Long, Zhigao

AU - Tang, Beisha

AU - Deng, Hanxiang

AU - Chen, Yong

AU - Zhang, Ruifang

AU - Zheng, Duo

AU - He, Yungui

AU - Xia, Kun

PY - 2002

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N2 - 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.

AB - 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.

KW - Autosomal dominant nonsyndromic hearing loss

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KW - Heterogeneous disorder

KW - Linkage analysis

KW - Logarithm of differences (LOD) score

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