PMID- 29160031
OWN - NLM
STAT- MEDLINE
DCOM- 20180621
LR  - 20220215
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 176
IP  - 1
DP  - 2018 Jan
TI  - Maternal inheritance of BDNF deletion, with phenotype of obesity and 
      developmental delay in mother and child.
PG  - 194-200
LID - 10.1002/ajmg.a.38539 [doi]
AB  - 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.
CI  - (c) 2017 Wiley Periodicals, Inc.
FAU - Harcourt, Brooke E
AU  - Harcourt BE
AUID- ORCID: 0000-0003-0028-873X
AD  - Obesity Research, Murdoch Childrens Research Institute, Parkville, Australia.
AD  - Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, 
      The University of Melbourne, Parkville, Australia.
AD  - Department of Endocrinology and Diabetes, The Royal Children's Hospital, 
      Melbourne, Australia.
AD  - Mater Research Institute-UQ, The University of Queensland, Brisbane, Australia.
FAU - Bullen, Denise V R
AU  - Bullen DVR
AD  - Monash Health, Victoria, Australia.
FAU - Kao, Kung-Ting
AU  - Kao KT
AD  - Obesity Research, Murdoch Childrens Research Institute, Parkville, Australia.
AD  - Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, 
      The University of Melbourne, Parkville, Australia.
AD  - Department of Endocrinology and Diabetes, The Royal Children's Hospital, 
      Melbourne, Australia.
FAU - Tassoni, Daniella
AU  - Tassoni D
AD  - Monash Health, Victoria, Australia.
FAU - Alexander, Erin J
AU  - Alexander EJ
AD  - Obesity Research, Murdoch Childrens Research Institute, Parkville, Australia.
AD  - Department of Endocrinology and Diabetes, The Royal Children's Hospital, 
      Melbourne, Australia.
FAU - Burgess, Trent
AU  - Burgess T
AD  - Victorian Clinical Genetic Services, The Royal Children's Hospital, Melbourne, 
      Australia.
FAU - White, Susan M
AU  - White SM
AD  - Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, 
      The University of Melbourne, Parkville, Australia.
AD  - Victorian Clinical Genetic Services, The Royal Children's Hospital, Melbourne, 
      Australia.
AD  - Murdoch Childrens Research Institute, Parkville, Australia.
FAU - Sabin, Matthew A
AU  - Sabin MA
AD  - Obesity Research, Murdoch Childrens Research Institute, Parkville, Australia.
AD  - Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, 
      The University of Melbourne, Parkville, Australia.
AD  - Department of Endocrinology and Diabetes, The Royal Children's Hospital, 
      Melbourne, Australia.
LA  - eng
PT  - Journal Article
DEP - 20171121
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Biomarkers)
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 7171WSG8A2 (BDNF protein, human)
SB  - IM
EIN - Am J Med Genet A. 2022 May;188(5):1647. PMID: 35166024
MH  - Biomarkers
MH  - Body Mass Index
MH  - Brain-Derived Neurotrophic Factor/*genetics
MH  - Child, Preschool
MH  - Chromosome Deletion
MH  - Developmental Disabilities/*diagnosis/*genetics/metabolism
MH  - Female
MH  - Genetic Association Studies
MH  - Growth Charts
MH  - Humans
MH  - *Maternal Inheritance
MH  - Obesity/*diagnosis/*genetics/metabolism
MH  - *Phenotype
MH  - *Sequence Deletion
OTO - NOTNLM
OT  - BDNF
OT  - childhood obesity
OT  - maternal inheritance
EDAT- 2017/11/22 06:00
MHDA- 2018/06/22 06:00
CRDT- 2017/11/22 06:00
PHST- 2016/08/07 00:00 [received]
PHST- 2017/09/28 00:00 [revised]
PHST- 2017/10/08 00:00 [accepted]
PHST- 2017/11/22 06:00 [pubmed]
PHST- 2018/06/22 06:00 [medline]
PHST- 2017/11/22 06:00 [entrez]
AID - 10.1002/ajmg.a.38539 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2018 Jan;176(1):194-200. doi: 10.1002/ajmg.a.38539. Epub 2017 
      Nov 21.