Alstrom Syndrome: Mutation Spectrum of ALMS1

被引：124

作者：

Marshall, Jan D. ^{[1
,2
]}

Muller, Jean ^{[3
,4
,5
]}

Collin, Gayle B. ^{[1
]}

Milan, Gabriella ^{[6
]}

Kingsmore, Stephen F. ^{[7
]}

Dinwiddie, Darrell ^{[7
,8
]}

Farrow, Emily G. ^{[7
]}

Miller, Neil A. ^{[7
]}

Favaretto, Francesca ^{[6
]}

Maffei, Pietro ^{[6
]}

Dollfus, Helene ^{[9
,10
]}

Vettor, Roberto ^{[6
]}

Naggert, Juergen K. ^{[1
]}

机构：

[1] Jackson Lab, Bar Harbor, ME 04660 USA

[2] Alstrom Syndrome Int, Mt Desert, ME USA

[3] Univ Strasbourg, IGBMC, CNRS, UMR 7104,INSERM,U964, Illkirch Graffenstaden, France

[4] Univ Strasbourg, CNRS, Lab ICUBE, LBGI,UMR 7357, Strasbourg, France

[5] Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France

[6] Univ Padua, Dept Med, Padua, Italy

[7] Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA

[8] Univ New Mexico, Dept Pediat, Albuquerque, NM 87131 USA

[9] Univ Strasbourg, Fac Med FMTS, Lab Genet Med, IGMA,UMR S INSERM U1112, Strasbourg, France

[10] Hop Univ Strasbourg, Ctr Reference Affect Rares Genet Ophtalmol CARGO, Serv Genet Med, Strasbourg, France

来源：

HUMAN MUTATION | 2015年 / 36卷 / 07期

基金：

美国国家卫生研究院;

关键词：

ALMS1; Alstrom Syndrome; ciliopathy; SNV; BARDET-BIEDL; EARLY-ONSET; DISEASES; VARIANTS; OBESITY; PHENOTYPE; PROTEIN; GENE; CARDIOMYOPATHY; IDENTIFICATION;

D O I：

10.1002/humu.22796

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Alstrom Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure. The precise function of ALMS1 remains elusive, but roles in endosomal and ciliary transport and cell cycle regulation have been shown. The aim of our study was to further define the spectrum of ALMS1 mutations in patients with clinical features of ALMS. Mutational analysis in a world-wide cohort of 204 families identified 109 novel mutations, extending the number of known ALMS1 mutations to 239 and highlighting the allelic heterogeneity of this disorder. This study represents the most comprehensive mutation analysis in patients with ALMS, identifying the largest number of novel mutations in a single study worldwide. Here, we also provide an overview of all ALMS1 mutations identified to date. (C) 2015 Wiley Periodicals, Inc.

引用

页码：660 / 668

页数：9

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