PMID- 23044507
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20130212
LR  - 20211021
IS  - 1538-3636 (Electronic)
IS  - 0003-990X (Print)
IS  - 0003-990X (Linking)
VI  - 69
IP  - 12
DP  - 2012 Dec
TI  - Highly penetrant alterations of a critical region including BDNF in human 
      psychopathology and obesity.
PG  - 1238-46
LID - 10.1001/archgenpsychiatry.2012.660 [doi]
AB  - CONTEXT Brain-derived neurotrophic factor (BDNF) is suspected of being a 
      causative factor in psychiatric disorders based on case reports or studies 
      involving large structural anomalies. OBJECTIVE To determine the involvement of 
      BDNF in human psychopathology. DESIGN Case-control study. SETTING 
      Microarray-based comparative genomic hybridization data from 7 molecular 
      diagnostic centers including 38 550 affected subjects and 28 705 unaffected 
      subjects. PATIENTS Subjects referred to diagnostic screening centers for 
      microarray-based comparative genomic hybridization for physical or cognitive 
      impairment. MAIN OUTCOME MEASURES Genomic copy number gains and losses. RESULTS 
      We report 5 individuals with psychopathology and genomic deletion of a critical 
      region including BDNF. The defined critical region was never disrupted in control 
      subjects or diagnostic cases without developmental abnormalities. CONCLUSION 
      Hemizygosity of the BDNF region contributes to variable psychiatric phenotypes 
      including anxiety, behavioral, and mood disorders.
FAU - Ernst, Carl
AU  - Ernst C
FAU - Marshall, Christian R
AU  - Marshall CR
FAU - Shen, Yiping
AU  - Shen Y
FAU - Metcalfe, Kay
AU  - Metcalfe K
FAU - Rosenfeld, Jill
AU  - Rosenfeld J
FAU - Hodge, Jennelle C
AU  - Hodge JC
FAU - Torres, Alcy
AU  - Torres A
FAU - Blumenthal, Ian
AU  - Blumenthal I
FAU - Chiang, Colby
AU  - Chiang C
FAU - Pillalamarri, Vamsee
AU  - Pillalamarri V
FAU - Crapper, Liam
AU  - Crapper L
FAU - Diallo, Alpha B
AU  - Diallo AB
FAU - Ruderfer, Douglas
AU  - Ruderfer D
FAU - Pereira, Shahrin
AU  - Pereira S
FAU - Sklar, Pamela
AU  - Sklar P
FAU - Purcell, Shaun
AU  - Purcell S
FAU - Wildin, Robert S
AU  - Wildin RS
FAU - Spencer, Anne C
AU  - Spencer AC
FAU - Quade, Bradley F
AU  - Quade BF
FAU - Harris, David J
AU  - Harris DJ
FAU - Lemyre, Emanuelle
AU  - Lemyre E
FAU - Wu, Bai-Lin
AU  - Wu BL
FAU - Stavropoulos, Dimitri J
AU  - Stavropoulos DJ
FAU - Geraghty, Michael T
AU  - Geraghty MT
FAU - Shaffer, Lisa G
AU  - Shaffer LG
FAU - Morton, Cynthia C
AU  - Morton CC
FAU - Scherer, Stephen W
AU  - Scherer SW
FAU - Gusella, James F
AU  - Gusella JF
FAU - Talkowski, Michael E
AU  - Talkowski ME
LA  - eng
GR  - F32 MH087123/MH/NIMH NIH HHS/United States
GR  - P01 GM061354/GM/NIGMS NIH HHS/United States
GR  - R21 HD065286/HD/NICHD NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - Arch Gen Psychiatry
JT  - Archives of general psychiatry
JID - 0372435
PMC - PMC3590016
MID - NIHMS440737
COIS- The authors declare no conflicts of interest.
EDAT- 2012/10/10 06:00
MHDA- 2012/10/10 06:01
PMCR- 2013/12/01
CRDT- 2012/10/10 06:00
PHST- 2012/10/10 06:00 [entrez]
PHST- 2012/10/10 06:00 [pubmed]
PHST- 2012/10/10 06:01 [medline]
PHST- 2013/12/01 00:00 [pmc-release]
AID - 1377691 [pii]
AID - 10.1001/archgenpsychiatry.2012.660 [doi]
PST - ppublish
SO  - Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 
      10.1001/archgenpsychiatry.2012.660.