Identification of a novel locus for a USH3 like syndrome combined with congenital cataract

被引：5

作者：

Dad, S. ^{[1
]}

Ostergaard, E. ^{[1
]}

Thykjaer, T. ^{[2
]}

Albrectsen, A. ^{[3
]}

Ravn, K. ^{[1
]}

Rosenberg, T. ^{[1
]}

Moller, L. B. ^{[1
]}

机构：

[1] Kennedy Ctr, DK-2600 Glostrup, Denmark

[2] AROS Appl Biotechnol AS, DK-8200 Aarhus N, Denmark

[3] Univ Copenhagen, Bioinformat Dept, Copenhagen, Denmark

来源：

CLINICAL GENETICS | 2010年 / 78卷 / 04期

关键词：

usher syndrome; 15q22-23; USH3; locus; congenital cataract; MAPS;

D O I：

10.1111/j.1399-0004.2010.01393.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Usher syndrome (USH) is the most common genetic disease that causes both deafness and blindness. USH is divided into three types, USH1, USH2 and USH3, depending on the age of onset, the course of the disease, and on the degree of vestibular dysfunction. By homozygosity mapping of a consanguineous Danish family of Dutch descent, we have identified a novel locus for a rare USH3-like syndrome. The affected family members have a unique association of retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. The phenotype is similar, but not identical to that of USH3 patients, as congenital cataract has not been reported for USH3. By homozygosity mapping, we identified a 7.3 Mb locus on chromosome 15q22.2-23 with a maximum multipoint LOD score of 2.0. The locus partially overlaps with the USH1 locus, USH1H, a novel unnamed USH2 locus, and the non-syndromic deafness locus DFNB48.

引用

页码：388 / 397

页数：10

共 10 条

[1] DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1 [J].