期刊
HUMAN MUTATION
卷 36, 期 7, 页码 660-668出版社
WILEY
DOI: 10.1002/humu.22796
关键词
ALMS1; Alstrom Syndrome; ciliopathy; SNV
资金
- Alstrom Syndrome International (Mt. Desert, ME)
- Alstrom Angels (Lubbock, TX)
- Alstrom Syndrome Canada (Finch, Ontario)
- National Institutes of Health [NIH-HD36878]
- Programme Hospitalier de Recherche Clinique National Alstrom [PHRC N5514]
- Italian Ministry of Education, University and Research (MIUR) [prot. 2005060925_002]
- EURO-WABB: an EU rare diseases registry for Wolfram syndrome
- European Union [2010 12 05]
- Children's Mercy Hospital
- Marion Merrell Dow Foundation
- William T. Kemper Foundation
- Pat & Gil Clements Foundation
- Claire Giannini Foundation
- Black Veatch [U19HD077693]
- US. Public Health Service (PHS) [CA34196]
- National Institutes of Health
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.
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