一个新定位的非综合征型低频感音神经性听力下降家系WHRN基因突变分析
An Analysis of WHRN Gene Mutations in a Novel Locus Mapped for the Chinese Pedigree Associated with Low-frequency Sensorineural Hearing Loss
关静;王秋菊;王大勇;李庆忠;赵亚丽;袁虎;韩东一;
1:解放军总医院耳鼻咽喉-头颈外科、解放军耳鼻咽喉科研究所
2:兰州大学第二医院耳鼻咽喉-头颈外科
3:解放军总医院耳鼻咽喉-头颈外科、解放军耳鼻咽喉科研究所
4:解放军总医院耳鼻咽喉-头颈外科、解放军耳鼻咽喉科研究所
摘要关键词基金项目(Foundation):作者参考文献1 Lynch ED,Lee MK,MorrowJE,et al.Nonsyndromic deaf-ness DFNA1associated with mutation of a human homolog of the Drosophila gene diaphanous[J].Science,1997,278:1315.
2 Young TL,Ices E,Lynch E,et al.Non-syndromic progres-sive hearing loss DFNA38is caused by heterozygous missense mutationin the Wolframsyndrome gene WFS1[J].Hum Mol Genet,2001,10:2509.
3 Bespaloca I N,Van Camp G,BomSJ,et al.Mutations in the Wolframsyndrome1gene(WFS1)are a common cause of low frequency sensorineural hearing loss[J].Hum Mol Genet,2001,10:2501.
4 BomSJ,Van Camp G,Cryns K,et al.Autosomal dominant low-frequency hearing i mpairment(DFNA6/14):a clinical and genetic family study[J].Otol Neurotol,2002,23:876.
5 Komatsu K,Nakamura N,Ghadami M,et al.Comfirmation of genetic homogeneity of nonsyndromic low-frequency sen-sorineural hearingloss bylinkage analysis and DFNA6/14mu-tationin a Japanese family[J].J Hum Genet,2002,47:395.
6 Gurtler N,Ki m Y,Mhatre A,et al.DFNA54,a third locus for low-frequency hearingloss[J].J Mol Med,2004,82:775.
7 Mburu P,Mustapha M,Varela A,et al.Defectsin whirlin,a PDZ domain molecule involved in stereocilia elongation,cause deafness in the whirler mouse and families with DFNB31[J].Nat Genet,2003,34:421.
8 Nagase T,Kikuno R,Ishikawa K,et al.Prediction of the coding sequences of unidentified human genes.XVII.The complete sequences of100newcDNAclones frombrain which code for large proteins in vitro[J].DNA Res,2000,7:143.
9 Yap CC,Liang F,Yamazaki Y,et al.CIP98,a novel PDZ do-main protein,is expressed in the central nervous system and interacts with cal modulin-dependent serine kinase[J]J.Neu-rochem,2003,85:123.