Long repeat tracts at SCA8 in major psychosis
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Publication Date: | 2000 |
Other Authors: | , , , , , , , , , , , , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://hdl.handle.net/10316/8432 https://doi.org/10.1002/1096-8628(20001204)96:6<873 |
Summary: | Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107-127 CTG repeats (or 110-130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was also cloned by our group from a bipolar affective disorder (BPAD) patient, who has approximately 600 combined repeats, and large alleles (>100 repeats) were reported to be present in 0.7% of controls and 1.5% of major psychosis patients (n = 710 and n = 1,120, respectively). We have followed up these findings by screening three new samples of BPAD and schizophrenia (SCZ) patients and controls, including 272 individuals from 14 BPAD families from Sweden, 130 individuals from 32 SCZ and BPAD families/trios from the Azores Islands, and 206 SCZ individuals from the United Kingdom and Ireland, and 219 matched controls. We found large repeat alleles above the SCA8 pathogenic range in individuals from 3 of 32 Azorean pedigrees and in 1 of 206 SCZ individuals from the United Kingdom, and repeat alleles within the SCA8 pathogenic range in 1 of 14 Swedish families. Although the rarity of major psychosis patients carrying the SCA8 expansion mutation would require a much larger sample size to reach statistical significance, these results support the previously reported observation of increased occurrence of large repeats at SCA8 in major psychosis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:873-876, 2000. © 2000 Wiley-Liss, Inc. |
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Long repeat tracts at SCA8 in major psychosisExpansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107-127 CTG repeats (or 110-130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was also cloned by our group from a bipolar affective disorder (BPAD) patient, who has approximately 600 combined repeats, and large alleles (>100 repeats) were reported to be present in 0.7% of controls and 1.5% of major psychosis patients (n = 710 and n = 1,120, respectively). We have followed up these findings by screening three new samples of BPAD and schizophrenia (SCZ) patients and controls, including 272 individuals from 14 BPAD families from Sweden, 130 individuals from 32 SCZ and BPAD families/trios from the Azores Islands, and 206 SCZ individuals from the United Kingdom and Ireland, and 219 matched controls. We found large repeat alleles above the SCA8 pathogenic range in individuals from 3 of 32 Azorean pedigrees and in 1 of 206 SCZ individuals from the United Kingdom, and repeat alleles within the SCA8 pathogenic range in 1 of 14 Swedish families. Although the rarity of major psychosis patients carrying the SCA8 expansion mutation would require a much larger sample size to reach statistical significance, these results support the previously reported observation of increased occurrence of large repeats at SCA8 in major psychosis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:873-876, 2000. © 2000 Wiley-Liss, Inc.2000info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://hdl.handle.net/10316/8432http://hdl.handle.net/10316/8432https://doi.org/10.1002/1096-8628(20001204)96:6<873engAmerican Journal of Medical Genetics. 96:6 (2000) 873-876Vincent, John B.Yuan, Qiu-PingSchalling, MartinAdolfsson, RAzevedo, M. HelenaMacedo, AntónioBauer, AmyDallaTorre, CamilleMedeiros, Helena M.Pato, Michele T.Pato, Carlos N.Bowen, TimothyGuy, Carol A.Owen, Michael J.O'Donovan, Michael C.Paterson, Andrew D.Petronis, ArturasKennedy, James L.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2021-10-21T11:25:33Zoai:estudogeral.uc.pt:10316/8432Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:43:30.907582Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Long repeat tracts at SCA8 in major psychosis |
title |
Long repeat tracts at SCA8 in major psychosis |
spellingShingle |
Long repeat tracts at SCA8 in major psychosis Vincent, John B. |
title_short |
Long repeat tracts at SCA8 in major psychosis |
title_full |
Long repeat tracts at SCA8 in major psychosis |
title_fullStr |
Long repeat tracts at SCA8 in major psychosis |
title_full_unstemmed |
Long repeat tracts at SCA8 in major psychosis |
title_sort |
Long repeat tracts at SCA8 in major psychosis |
author |
Vincent, John B. |
author_facet |
Vincent, John B. Yuan, Qiu-Ping Schalling, Martin Adolfsson, R Azevedo, M. Helena Macedo, António Bauer, Amy DallaTorre, Camille Medeiros, Helena M. Pato, Michele T. Pato, Carlos N. Bowen, Timothy Guy, Carol A. Owen, Michael J. O'Donovan, Michael C. Paterson, Andrew D. Petronis, Arturas Kennedy, James L. |
author_role |
author |
author2 |
Yuan, Qiu-Ping Schalling, Martin Adolfsson, R Azevedo, M. Helena Macedo, António Bauer, Amy DallaTorre, Camille Medeiros, Helena M. Pato, Michele T. Pato, Carlos N. Bowen, Timothy Guy, Carol A. Owen, Michael J. O'Donovan, Michael C. Paterson, Andrew D. Petronis, Arturas Kennedy, James L. |
author2_role |
author author author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Vincent, John B. Yuan, Qiu-Ping Schalling, Martin Adolfsson, R Azevedo, M. Helena Macedo, António Bauer, Amy DallaTorre, Camille Medeiros, Helena M. Pato, Michele T. Pato, Carlos N. Bowen, Timothy Guy, Carol A. Owen, Michael J. O'Donovan, Michael C. Paterson, Andrew D. Petronis, Arturas Kennedy, James L. |
description |
Expansion at a recently identified unstable trinucleotide repeat on chromosome 13q21 has been reported as the molecular cause for spinocerebellar ataxia type 8 (SCA8). The trinucleotide repeat, which consists of a [CTA]n repeat and adjacent [CTG]n repeat, was reported to have a pathogenic range of 107-127 CTG repeats (or 110-130 combined CTA and CTG repeats) in a large ataxia kindred. This repeat region was also cloned by our group from a bipolar affective disorder (BPAD) patient, who has approximately 600 combined repeats, and large alleles (>100 repeats) were reported to be present in 0.7% of controls and 1.5% of major psychosis patients (n = 710 and n = 1,120, respectively). We have followed up these findings by screening three new samples of BPAD and schizophrenia (SCZ) patients and controls, including 272 individuals from 14 BPAD families from Sweden, 130 individuals from 32 SCZ and BPAD families/trios from the Azores Islands, and 206 SCZ individuals from the United Kingdom and Ireland, and 219 matched controls. We found large repeat alleles above the SCA8 pathogenic range in individuals from 3 of 32 Azorean pedigrees and in 1 of 206 SCZ individuals from the United Kingdom, and repeat alleles within the SCA8 pathogenic range in 1 of 14 Swedish families. Although the rarity of major psychosis patients carrying the SCA8 expansion mutation would require a much larger sample size to reach statistical significance, these results support the previously reported observation of increased occurrence of large repeats at SCA8 in major psychosis. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:873-876, 2000. © 2000 Wiley-Liss, Inc. |
publishDate |
2000 |
dc.date.none.fl_str_mv |
2000 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10316/8432 http://hdl.handle.net/10316/8432 https://doi.org/10.1002/1096-8628(20001204)96:6<873 |
url |
http://hdl.handle.net/10316/8432 https://doi.org/10.1002/1096-8628(20001204)96:6<873 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
American Journal of Medical Genetics. 96:6 (2000) 873-876 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.source.none.fl_str_mv |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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