Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11

Maria Karayiorgou; Michael A. Morris; Bernice Morrow; Robert J. Shprintzen; Rosalie Goldberg; Julian Borrow; Arnaud Gos; Gerald Nestadt; Paula Wolyniec; Virginia K. Lasseter; Harvey Eisen; Barton Childs; Haig H. Kazazizan; Raju Kucherlapati; Stylianos E. Antonarakis; Ann E Pulver; David E. Housman

doi:10.1073/pnas.92.17.7612

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11

Maria Karayiorgou, Michael A. Morris, Bernice Morrow, Robert J. Shprintzen, Rosalie Goldberg, Julian Borrow, Arnaud Gos, Gerald Nestadt, Paula Wolyniec, Virginia K. Lasseter, Harvey Eisen, Barton Childs, Haig H. Kazazizan, Raju Kucherlapati, Stylianos E. Antonarakis, Ann E Pulver, David E. Housman

School of Medicine

Research output: Contribution to journal › Article › peer-review

522 Scopus citations

Abstract

We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.

Original language	English (US)
Pages (from-to)	7612-7616
Number of pages	5
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	92
Issue number	17
DOIs	https://doi.org/10.1073/pnas.92.17.7612
State	Published - Aug 15 1995

Keywords

human
psychosis
somatic cell hybrids
velocardiofacial syndrome

ASJC Scopus subject areas

General

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10.1073/pnas.92.17.7612

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Karayiorgou, M., Morris, M. A., Morrow, B., Shprintzen, R. J., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P., Lasseter, V. K., Eisen, H., Childs, B., Kazazizan, H. H., Kucherlapati, R., Antonarakis, S. E., Pulver, A. E., & Housman, D. E. (1995). Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proceedings of the National Academy of Sciences of the United States of America, 92(17), 7612-7616. https://doi.org/10.1073/pnas.92.17.7612

Karayiorgou, M, Morris, MA, Morrow, B, Shprintzen, RJ, Goldberg, R, Borrow, J, Gos, A, Nestadt, G, Wolyniec, P, Lasseter, VK, Eisen, H, Childs, B, Kazazizan, HH, Kucherlapati, R, Antonarakis, SE, Pulver, AE & Housman, DE 1995, 'Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11', Proceedings of the National Academy of Sciences of the United States of America, vol. 92, no. 17, pp. 7612-7616. https://doi.org/10.1073/pnas.92.17.7612

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title = "Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11",

abstract = "We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.",

keywords = "human, psychosis, somatic cell hybrids, velocardiofacial syndrome",

author = "Maria Karayiorgou and Morris, {Michael A.} and Bernice Morrow and Shprintzen, {Robert J.} and Rosalie Goldberg and Julian Borrow and Arnaud Gos and Gerald Nestadt and Paula Wolyniec and Lasseter, {Virginia K.} and Harvey Eisen and Barton Childs and Kazazizan, {Haig H.} and Raju Kucherlapati and Antonarakis, {Stylianos E.} and Pulver, {Ann E} and Housman, {David E.}",

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doi = "10.1073/pnas.92.17.7612",

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AU - Karayiorgou, Maria

AU - Morris, Michael A.

AU - Morrow, Bernice

AU - Shprintzen, Robert J.

AU - Goldberg, Rosalie

AU - Borrow, Julian

AU - Gos, Arnaud

AU - Nestadt, Gerald

AU - Wolyniec, Paula

AU - Lasseter, Virginia K.

AU - Eisen, Harvey

AU - Childs, Barton

AU - Kazazizan, Haig H.

AU - Kucherlapati, Raju

AU - Antonarakis, Stylianos E.

AU - Pulver, Ann E

AU - Housman, David E.

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N2 - We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.

AB - We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.

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KW - psychosis

KW - somatic cell hybrids

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Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11

Abstract

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