Document Detail

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.
MedLine Citation:
PMID:  19774839     Owner:  NLM     Status:  MEDLINE    
Childhood obesity is a common and complex problem that may persist in adulthood. It may present as a component of genetic syndromes associated with dysmorphic features, developmental abnormalities, mental retardation and/or learning disabilities and often neuroendocrine dysfunction. Although the chromosomal abnormalities of these rare syndromes are already known, the specific genetic and pathophysiological mechanisms leading to the distinct phenotypes and obesity still remain unclarified. New exciting genetic pathways contributing to syndrome phenotype and leading to obesity have recently been identified. Prader-Willi syndrome is caused by loss of expression of the C/D box HBII-84 cluster of snoRNAs. Dysfunction of the primary cilium, thought to have important signalling functions, may contribute to disease phenotype and obesity in Bardet-Biedl, Alstrom and Carpenter syndromes. In this mini-review current knowledge of clinical and genetic characteristics is summarized as well as the pathogenesis of these syndromes with special emphasis on the pathogenesis of obesity.
Eleni Kousta; Charalambos G Hadjiathanasiou; George Tolis; Asteroula Papathanasiou
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  22     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-09-24     Completed Date:  2009-10-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  581-92     Citation Subset:  IM    
Department of Endocrinology, P & A Kyriakou Children's Hospital, Athens, Greece.
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MeSH Terms
Chromosome Disorders / genetics*,  physiopathology
Genes, Dominant / genetics*
Genes, Recessive / genetics*
Genetic Diseases, X-Linked / genetics*,  physiopathology
Obesity / genetics*,  physiopathology

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