Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome.

Authors: Collin, GB  Marshall, JD  Ikeda, A  So, WV  Russell-Eggitt, I  Maffei, P  Beck, S  Boerkoel, CF  Sicolo, N  Martin, M  Nishina, PM  Naggert, JK 
Citation: Collin GB, etal., Nat Genet. 2002 May;31(1):74-8. Epub 2002 Apr 8.
Pubmed: (View Article at PubMed) PMID:11941369
DOI: Full-text: DOI:10.1038/ng867

Alstrom syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with hyperinsulinemia, chronic hyperglycemia and neurosensory deficits. The gene involved in Alstrom syndrome probably interacts with genetic modifiers, as subsets of affected individuals present with additional features such as dilated cardiomyopathy, hepatic dysfunction, hypothyroidism, male hypogonadism, short stature and mild to moderate developmental delay, and with secondary complications normally associated with type 2 diabetes, such as hyperlipidemia and atherosclerosis. Our detection of an uncharacterized transcript, KIAA0328, led us to identify the gene ALMS1, which contains sequence variations, including four frameshift mutations and two nonsense mutations, that segregate with Alstrom syndrome in six unrelated families. ALMS1 is ubiquitously expressed at low levels and does not share significant sequence homology with other genes reported so far. The identification of ALMS1 provides an entry point into a new pathway leading toward the understanding of both Alstrom syndrome and the common diseases that characterize it.

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CRRD Object Information
CRRD ID: 1601169
Created: 2007-04-10
Species: All species
Last Modified: 2007-04-10
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.