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The Clinical and Molecular Genetics of Alström Syndrome 

The Clinical and Molecular Genetics of Alström Syndrome
Chapter:
The Clinical and Molecular Genetics of Alström Syndrome
Author(s):

Gayle B. Collin

, Jan D. Marshall

, Jürgen K. Naggert

, and Patsy M. Nishina

DOI:
10.1093/med/9780195300161.003.0008
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date: 17 April 2021

Alström syndrome (ALMS, Online Mendelian Inheritance in Man [OMIM] 203800) is a rare autosomal recessive disorder characterized by progressive neurosensory deficits, childhood obesity, insulin resistance, and hyperinsulinemia leading to type 2 diabetes and male hypogonadism. Variable features include short stature, dilated cardiomyopathy, hyperuricemia, hypertriglyceridemia, and hepatic and renal failure. The disorder appears to be genetically homogeneous since only one map position (Chr 2p13) for ALMS has been reported thus far. The gene for ALMS was identified as a novel gene of unknown function with ubiquitous expression (Collin et al. 2002; Hearn et al. 2002). The subcellular localization of ALMS1 to centrosomes and basal bodies of ciliated cells suggests that the protein plays a role in the function and/or genesis and maintenance of cilia (Andersen et al. 2003; Hearn et al. 2005; Li et al.). Therefore, ALMS is another member of the growing class of genes that lead to ciliopathies when mutated (Badano et al. 2006). The recently generated Almsl-/-disrupted mice provide a useful model system to better study the disease pathogenesis of this multisystem disorder.

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