A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/313 |
Resumo: | Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders. |
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaTranslocationDeletionAutismMyopiaArray CGHChromosome 18Perturbações do Desenvolvimento Infantil e Saúde MentalAutism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.Nature Publishing GroupRepositório Científico do Instituto Nacional de SaúdeGilling, M.Lauritsen, M.B.Møller, M.Henriksen, K.F.Vicente, A.M.Oliveira, G.Cintin, C.Eiberg, H.Andersen, P.S.Mors, O.Rosenberg, T.Brøndum-Nielsen, K.Cotterill, R.M.Lundsteen, C.Ropers, H.H.Ullmann, R.Bache, I.Tümer, Z.Tommerup, N.2011-11-09T15:37:07Z2008-01-092008-01-09T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/313engEur J Hum Genet. 2008 Mar;16(3):312-9. Epub 2008 Jan 91018-4813doi:10.1038/sj.ejhg.5201985info: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:RCAAP2023-07-20T15:38:08Zoai:repositorio.insa.pt:10400.18/313Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:35:32.443454Repositório 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 |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
title |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
spellingShingle |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia Gilling, M. Translocation Deletion Autism Myopia Array CGH Chromosome 18 Perturbações do Desenvolvimento Infantil e Saúde Mental |
title_short |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
title_full |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
title_fullStr |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
title_full_unstemmed |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
title_sort |
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia |
author |
Gilling, M. |
author_facet |
Gilling, M. Lauritsen, M.B. Møller, M. Henriksen, K.F. Vicente, A.M. Oliveira, G. Cintin, C. Eiberg, H. Andersen, P.S. Mors, O. Rosenberg, T. Brøndum-Nielsen, K. Cotterill, R.M. Lundsteen, C. Ropers, H.H. Ullmann, R. Bache, I. Tümer, Z. Tommerup, N. |
author_role |
author |
author2 |
Lauritsen, M.B. Møller, M. Henriksen, K.F. Vicente, A.M. Oliveira, G. Cintin, C. Eiberg, H. Andersen, P.S. Mors, O. Rosenberg, T. Brøndum-Nielsen, K. Cotterill, R.M. Lundsteen, C. Ropers, H.H. Ullmann, R. Bache, I. Tümer, Z. Tommerup, N. |
author2_role |
author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Gilling, M. Lauritsen, M.B. Møller, M. Henriksen, K.F. Vicente, A.M. Oliveira, G. Cintin, C. Eiberg, H. Andersen, P.S. Mors, O. Rosenberg, T. Brøndum-Nielsen, K. Cotterill, R.M. Lundsteen, C. Ropers, H.H. Ullmann, R. Bache, I. Tümer, Z. Tommerup, N. |
dc.subject.por.fl_str_mv |
Translocation Deletion Autism Myopia Array CGH Chromosome 18 Perturbações do Desenvolvimento Infantil e Saúde Mental |
topic |
Translocation Deletion Autism Myopia Array CGH Chromosome 18 Perturbações do Desenvolvimento Infantil e Saúde Mental |
description |
Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-01-09 2008-01-09T00:00:00Z 2011-11-09T15:37:07Z |
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/10400.18/313 |
url |
http://hdl.handle.net/10400.18/313 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Eur J Hum Genet. 2008 Mar;16(3):312-9. Epub 2008 Jan 9 1018-4813 doi:10.1038/sj.ejhg.5201985 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Nature Publishing Group |
publisher.none.fl_str_mv |
Nature Publishing Group |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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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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