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
Y1 - 2002
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
KW - DFNA42
KW - Heterogeneous disorder
KW - Linkage analysis
KW - Logarithm of differences (LOD) score
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U2 - 10.1007/s100380200098
DO - 10.1007/s100380200098
M3 - Article
C2 - 12522684
AN - SCOPUS:12244305550
VL - 47
SP - 635
EP - 640
JO - Jinrui idengaku zasshi. The Japanese journal of human genetics
JF - Jinrui idengaku zasshi. The Japanese journal of human genetics
SN - 1434-5161
IS - 12
ER -