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 Harris; Emanuelle 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

doi:10.1001/archgenpsychiatry.2012.660

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 Harris

Emanuelle 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 journal › Article › peer-review

Abstract

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 language	English
Journal	Archives of General Psychiatry
Volume	69
Issue number	12
DOIs	https://doi.org/10.1001/archgenpsychiatry.2012.660
Publication status	Published - Dec 2012

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10.1001/archgenpsychiatry.2012.660

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Ernst, C., Marshall, C. R., Shen, Y., Metcalfe, K., Rosenfeld, J., Hodge, J. C., Torres, A., Blumenthal, I., Chiang, C., Pillalamarri, V., Crapper, L., Diallo, A. B., Ruderfer, D., Pereira, S., Sklar, P., Purcell, S., Wildin, R. S., Spencer, A. C., Quade, B. F., ... Talkowski, M. E. (2012). Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Archives of General Psychiatry, 69(12). https://doi.org/10.1001/archgenpsychiatry.2012.660

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title = "Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.",

abstract = "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.",

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

note = "P01 GM061354, NIGMS NIH HHS, United States",

year = "2012",

month = dec,

doi = "10.1001/archgenpsychiatry.2012.660",

language = "English",

volume = "69",

journal = "Archives of General Psychiatry",

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Ernst, C, Marshall, CR, Shen, Y, Metcalfe, K, Rosenfeld, J, Hodge, JC, Torres, A, Blumenthal, I, Chiang, C, Pillalamarri, V, Crapper, L, Diallo, AB, Ruderfer, D, Pereira, S, Sklar, P, Purcell, S, Wildin, RS, Spencer, AC, Quade, BF, Harris, DJ, Lemyre, E, Wu, B-L, Stavropoulos, DJ, Geraghty, MT, Shaffer, LG, Morton, CC, Scherer, SW, Gusella, JF & Talkowski, ME 2012, 'Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.', Archives of General Psychiatry, vol. 69, no. 12. https://doi.org/10.1001/archgenpsychiatry.2012.660

TY - JOUR

T1 - Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

AU - Ernst, Carl

AU - Marshall, Christian R

AU - Shen, Yiping

AU - Metcalfe, Kay

AU - Rosenfeld, Jill

AU - Hodge, Jennelle C

AU - Torres, Alcy

AU - Blumenthal, Ian

AU - Chiang, Colby

AU - Pillalamarri, Vamsee

AU - Crapper, Liam

AU - Diallo, Alpha B

AU - Ruderfer, Douglas

AU - Pereira, Shahrin

AU - Sklar, Pamela

AU - Purcell, Shaun

AU - Wildin, Robert S

AU - Spencer, Anne C

AU - Quade, Bradley F

AU - Harris, David J

AU - Lemyre, Emanuelle

AU - Wu, Bai-Lin

AU - Stavropoulos, Dimitri J

AU - Geraghty, Michael T

AU - Shaffer, Lisa G

AU - Morton, Cynthia C

AU - Scherer, Stephen W

AU - Gusella, James F

AU - Talkowski, Michael E

N1 - P01 GM061354, NIGMS NIH HHS, United States

PY - 2012/12

Y1 - 2012/12

N2 - 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.

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.

U2 - 10.1001/archgenpsychiatry.2012.660

DO - 10.1001/archgenpsychiatry.2012.660

M3 - Article

C2 - 23044507

SN - 1538-3636

VL - 69

JO - Archives of General Psychiatry

JF - Archives of General Psychiatry

IS - 12

ER -

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

Abstract

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