The Clinical and Molecular Genetics of Alström Syndrome

Gayle B. Collin, Jan D. Marshall, Jürgen K. Naggert and Patsy M. Nishina

in Genetics of Obesity Syndromes

Published on behalf of Oxford University Press

Published in print July 2009 | ISBN: 9780195300161
Published online October 2012 | e-ISBN: 9780199975198 | DOI:

Series: Oxford Monographs on Medical Genetics

The Clinical and Molecular Genetics of Alström Syndrome

More Like This

Show all results sharing these subjects:

  • Clinical Genetics
  • Endocrinology and Diabetes


Show Summary Details


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.

Chapter.  5533 words.  Illustrated.

Subjects: Clinical Genetics ; Endocrinology and Diabetes

Full text: subscription required

How to subscribe Recommend to my Librarian

Buy this work at Oxford University Press »

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.