RT Journal
A1 Ernst C, Marshall CR, Shen Y, et al
T1 HIghly penetrant alterations of a critical region including bdnf in human psychopathology and obesity
JF Archives of General Psychiatry
JO Archives of General Psychiatry
YR 2012
FD December 1
VO 69
IS 12
SP 1238
OP 1246
DO 10.1001/archgenpsychiatry.2012.660
UL http://dx.doi.org/10.1001/archgenpsychiatry.2012.660
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.