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Maternal inheritance of BDNF deletion,with phenotype of obesity and developmental delay in mother and child
Authors:Brooke E. Harcourt  Denise V. R. Bullen  Kung‐Ting Kao  Daniella Tassoni  Erin J. Alexander  Trent Burgess  Susan M. White  Matthew A. Sabin
Affiliation:1. Obesity Research, Murdoch Childrens Research Institute, Parkville, Australia;2. Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Australia;3. Department of Endocrinology and Diabetes, The Royal Children's Hospital, Melbourne, Australia;4. Mater Research Institute‐UQ, The University of Queensland, Brisbane, Australia;5. Monash Health, Victoria, Australia;6. Victorian Clinical Genetic Services, The Royal Children's Hospital, Melbourne, Australia;7. Murdoch Childrens Research Institute, Parkville, Australia
Abstract:Childhood obesity is a significant world health problem. Understanding the genetic and environmental factors contributing to the development of obesity in childhood is important for the rational design of strategies for obesity prevention and treatment. Brain‐derived neurotrophic factor (BDNF) plays an important role in the growth and development of the central nervous system, there is also an evidence that BDNF plays a role in regulation of appetite. Disruption of the expression of this gene in a child has been previously reported to result in a phenotype of severe obesity, hyperphagia, impaired cognitive function, and hyperactivity. We report a mother and child, both with micro‐deletions encompassing the BDNF gene locus, who both have obesity and developmental delay, although without hyperactivity. This report highlights the maternal inheritance of a rare genetic cause of childhood obesity.
Keywords:BDNF  childhood obesity  maternal inheritance
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