Open AccessBrain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome
Author(s) -
Joan C. Han,
QingRong Liu,
MaryPat Jones,
Rebecca L. Levinn,
Carolyn M. Menzie,
Kyra JeffersonGeorge,
Diane C. AdlerWailes,
Ethan L. Sanford,
Felicitas Lacbawan,
George R. Uhl,
Owen M. Rennert,
Jack A. Yanovski
Publication year - 2008
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa0801119
Subject(s) - haploinsufficiency , aniridia , medicine , pax6 , neurotrophic factors , genetics , tropomyosin receptor kinase b , brain derived neurotrophic factor , endocrinology , neuroscience , gene , biology , transcription factor , receptor , phenotype
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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