Document Detail


Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome.
MedLine Citation:
PMID:  11941369     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Alström 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 Alström 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 Alström 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 Alström syndrome and the common diseases that characterize it.
Authors:
Gayle B Collin; Jan D Marshall; Akihiro Ikeda; W Venus So; Isabelle Russell-Eggitt; Pietro Maffei; Sebastian Beck; Cornelius F Boerkoel; Nicola Sicolo; Mitchell Martin; Patsy M Nishina; Jürgen K Naggert
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.     Date:  2002-04-08
Journal Detail:
Title:  Nature genetics     Volume:  31     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  2002 May 
Date Detail:
Created Date:  2002-05-01     Completed Date:  2002-05-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  74-8     Citation Subset:  IM    
Affiliation:
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/AB002326;  AB023136;  AC069346;  AC074008;  AF425257;  AL041387;  AW082244
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Base Sequence
Child
DNA / genetics
DNA Mutational Analysis
DNA-Binding Proteins / genetics*
Diabetes Mellitus, Type 2 / genetics*
Female
Gene Expression
Humans
Male
Molecular Sequence Data
Mutation*
Nerve Degeneration / genetics*
Neurosecretory Systems / pathology*,  physiopathology*
Obesity / genetics*
Pedigree
Sequence Homology, Amino Acid
Syndrome
Chemical
Reg. No./Substance:
0/Alms1 protein, mouse; 0/DNA-Binding Proteins; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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