| Genetic obesity syndromes. | |
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MedLine Citation:
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PMID: 18230893 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome. |
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Authors:
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Anthony P Goldstone; Philip L Beales |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Frontiers of hormone research Volume: 36 ISSN: 0301-3073 ISO Abbreviation: Front Horm Res Publication Date: 2008 |
Date Detail:
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Created Date: 2008-01-30 Completed Date: 2008-05-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0320246 Medline TA: Front Horm Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 37-60 Citation Subset: IM |
Affiliation:
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MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, UK. tony.goldstone@imperial.ac.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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genetics Animals Bardet-Biedl Syndrome / genetics Brain / abnormalities Chromosomes, Human, Pair 1 / genetics Chromosomes, Human, Pair 14 / genetics Chromosomes, Human, Pair 2 / genetics Chromosomes, Human, Pair 6 / genetics Chromosomes, Human, Pair 9 / genetics Feeding Behavior Fibrous Dysplasia, Polyostotic / genetics Fragile X Syndrome / genetics Gene Deletion Humans Obesity / genetics* Prader-Willi Syndrome / genetics Proteins / genetics Rubinstein-Taybi Syndrome / genetics Syndrome Vesicular Transport Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/ALMS1 protein, human; 0/Proteins; 0/VPS13B protein, human; 0/Vesicular Transport Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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