Brain-derived neurotrophic factor and obesity in the WAGR syndrome by Han Joan C, Liu Qing-Rong, Jones MaryPat, Levinn Rebecca L, Menzie Carolyn M, Jefferson-George Kyra S, Adler-Wailes Diane C, Sanford Ethan L, Lacbawan Felicitas L, Uhl George R, Rennert Owen M, Yanovski Jack A in The New England journal of medicine (2008).

[PMID: 18753648] PubMed


Brain-derived neurotrophic factor (BDNF) has been found to be important in energy homeostasis in animal models, but little is known about its role in energy balance in humans. Heterozygous, variably sized, contiguous gene deletions causing haploinsufficiency of the WT1 and PAX6 genes on chromosome 11p13, approximately 4 Mb centromeric to BDNF (11p14.1), result in the Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome. Hyperphagia and obesity were observed in a subgroup of patients with the WAGR syndrome. We hypothesized that the subphenotype of obesity in the WAGR syndrome is attributable to deletions that induce haploinsufficiency of BDNF.

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