Fat chance: genetic syndromes with obesity
- 14 July 2004
- journal article
- review article
- Published by Wiley in Clinical Genetics
- Vol. 66 (2), 83-93
- https://doi.org/10.1111/j.0009-9163.2004.00300.x
Abstract
Although obesity shows high heritability, we are aware of only a small number of genes that affect adipose mass in humans. Genetic syndromes with obesity represent unique opportunities to gain insight into the control of energy balance. The majority of obesity syndromes can be distinguished by the presence of mental retardation. We performed a systematic search of such syndromes and reviewed the literature with a focus on distinguishing clinical features, the characteristics of their obesity, and the underlying pathogenetic mechanisms. We predict that the study of these conditions will shed light on common forms of obesity.Keywords
This publication has 116 references indexed in Scilit:
- Energy metabolism in Bardet–Biedl syndromeInternational Journal of Obesity, 2003
- Energy expenditure in neonates with down syndromeThe Journal of Pediatrics, 2003
- Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndromeNature Genetics, 2002
- Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndromeNature Genetics, 2002
- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeNature Genetics, 2002
- Cloned mice have an obese phenotype not transmitted to their offspringNature Medicine, 2002
- De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndromeNature Genetics, 1997
- UBE3A/E6-AP mutations cause Angelman syndromeNature Genetics, 1997
- Natural history of Alström syndrome in early childhood: Onset with dilated cardiomyopathyThe Journal of Pediatrics, 1996
- X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity—a new syndromeThe Journal of Pediatrics, 1979