USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

被引：30

作者：

Ahmed, Z. M. ^{[1
]}

Riazuddin, S. ^{[1
,2
]}

Khan, S. N. ^{[2
]}

Friedman, P. L. ^{[3
]}

Riazuddin, S. ^{[1
,2
]}

Friedman, T. B. ^{[1
]}

机构：

[1] Natl Inst Deafness & Other Commun Disorders, Sect Human Genet, Mol Genet Lab, NIH, Rockville, MD 20850 USA

[2] Univ Punjab, Natl Ctr Excellence Mol Biol, Lahore, Pakistan

[3] NIH, Internal Med Consult Serv, Hatfield Clin Res Ctr, Bethesda, MD USA

来源：

CLINICAL GENETICS | 2009年 / 75卷 / 01期

基金：

美国国家卫生研究院;

关键词：

15q22-23; deafness; DFNB48; retinitis pigmentosa; Usher syndrome; USH1H; vestibular dysfunction; NONSYNDROMIC HEARING-LOSS; SYNDROME TYPE 1F; TRANSCRIPTION FACTOR; INNER-EAR; RETINITIS-PIGMENTOSA; DEAFNESS LOCUS; ASHKENAZI JEWS; MUTATIONS; GENE; PCDH15;

D O I：

10.1111/j.1399-0004.2008.01038.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Usher syndrome (USH) is a hereditary disorder associated with sensorineural hearing impairment, progressive loss of vision attributable to retinitis pigmentosa (RP) and variable vestibular function. Three clinical types have been described with type I (USH1) being the most severe. To date, six USH1 loci have been reported. We ascertained two large Pakistani consanguineous families segregating profound hearing loss, vestibular dysfunction, and RP, the defining features of USH1. In these families, we excluded linkage of USH to the 11 known USH loci and subsequently performed a genome-wide linkage screen. We found a novel USH1 locus designated USH1H that mapped to chromosome 15q22-23 in a 4.92-cM interval. This locus overlaps the non-syndromic deafness locus DFNB48 raising the possibility that the two disorders may be caused by allelic mutations.

引用

页码：86 / 91

页数：6

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