Alström Syndrome: Mutation Spectrum of ALMS1.
Document Type
Article
Publication Date
7-1-2015
JAX Source
Hum Mutat 2015 Jul; 36(7):660-8.
Volume
36
Issue
7
First Page
660
Last Page
668
ISSN
1098-1004
PMID
25846608
Abstract
Alström 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. Hum Mutat 2015 Jul; 36(7):660-8.
Recommended Citation
Marshall JD,
Muller J,
Collin GB,
Milan G,
Kingsmore S,
Dinwiddie D,
Farrow E,
Miller N,
Favaretto F,
Maffei P,
Dollfus H,
Vettor R,
Naggert JK.
Alström Syndrome: Mutation Spectrum of ALMS1. Hum Mutat 2015 Jul; 36(7):660-8.