Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

Carl Ernst, Christian R. Marshall, Yiping Shen, Kay Metcalfe, Jill Rosenfeld, Jennelle C. Hodge, Alcy Torres, Ian Blumenthal, Colby Chiang, Vamsee Pillalamarri, Liam Crapper, Alpha B. Diallo, Douglas Ruderfer, Shahrin Pereira, Pamela Sklar, Shaun Purcell, Robert S. Wildin, Anne C. Spencer, Bradley F. Quade, David J. HarrisEmanuelle Lemyre, Bai Lin Wu, Dimitri J. Stavropoulos, Michael T. Geraghty, Lisa G. Shaffer, Cynthia C. Morton, Stephen W. Scherer, James F. Gusella, Michael E. Talkowski

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1238-1246
Number of pages9
JournalArchives of General Psychiatry
Issue number12
StatePublished - Dec 2012

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Psychiatry and Mental health


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