Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional do INPA |
Texto Completo: | https://repositorio.inpa.gov.br/handle/1/14886 |
Resumo: | Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to be clinically and molecularly trialled for FXS due to the high levels of comorbidity between both conditions and also due to the variable expressiveness of this syndrome. This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this gene could offer new therapeutic or pharmacological methods for the treatment of these patients. Both the presence and the frequency of CGG expansions were verified in 90 autism males by molecular analysis. Four of them had intermediate alleles and four others presented premutated alleles. Premutation carriers are on the propensity of developing the late onset Fragile X-associated tremor/ataxia syndrome. No full mutation alleles were found. Further studies are necessary to obtain more accurate statistical data about this kind of dynamic mutation. © 2019, Academia Brasileira de Ciencias. All rights reserved. |
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Ferreira, Jorge Frank B.Batista, Jacqueline S.Fantin, Cleiton2020-05-07T13:44:09Z2020-05-07T13:44:09Z2019https://repositorio.inpa.gov.br/handle/1/1488610.1590/0001-3765201920180882Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to be clinically and molecularly trialled for FXS due to the high levels of comorbidity between both conditions and also due to the variable expressiveness of this syndrome. This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this gene could offer new therapeutic or pharmacological methods for the treatment of these patients. Both the presence and the frequency of CGG expansions were verified in 90 autism males by molecular analysis. Four of them had intermediate alleles and four others presented premutated alleles. Premutation carriers are on the propensity of developing the late onset Fragile X-associated tremor/ataxia syndrome. No full mutation alleles were found. Further studies are necessary to obtain more accurate statistical data about this kind of dynamic mutation. © 2019, Academia Brasileira de Ciencias. All rights reserved.Volume 91, Número 3Attribution-NonCommercial-NoDerivs 3.0 Brazilhttp://creativecommons.org/licenses/by-nc-nd/3.0/br/info:eu-repo/semantics/openAccessFmr1 Protein, HumanFragile X Mental Retardation ProteinAdolescentAlleleAutismChildFragile X SyndromeGenetic PredispositionGenetic ScreeningGeneticsHumanMaleMutationChild, PreschoolYoung AdultAdolescentAllelesAutism Spectrum DisorderChildChild, PreschoolFragile X Mental Retardation ProteinFragile X SyndromeGenetic Predisposition To DiseaseGenetic TestingHumansMaleMutationYoung AdultScreening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleAnais da Academia Brasileira de Ciênciasengreponame:Repositório Institucional do INPAinstname:Instituto Nacional de Pesquisas da Amazônia (INPA)instacron:INPAORIGINALartigo-inpa.pdfapplication/pdf957087https://repositorio.inpa.gov.br/bitstream/1/14886/1/artigo-inpa.pdf60c64df6c95d3872354f1dbfee9ed847MD51CC-LICENSElicense_rdfapplication/octet-stream914https://repositorio.inpa.gov.br/bitstream/1/14886/2/license_rdf4d2950bda3d176f570a9f8b328dfbbefMD521/148862020-07-14 10:23:45.739oai:repositorio:1/14886Repositório de PublicaçõesPUBhttps://repositorio.inpa.gov.br/oai/requestopendoar:2020-07-14T14:23:45Repositório Institucional do INPA - Instituto Nacional de Pesquisas da Amazônia (INPA)false |
dc.title.en.fl_str_mv |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil |
title |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil |
spellingShingle |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil Ferreira, Jorge Frank B. Fmr1 Protein, Human Fragile X Mental Retardation Protein Adolescent Allele Autism Child Fragile X Syndrome Genetic Predisposition Genetic Screening Genetics Human Male Mutation Child, Preschool Young Adult Adolescent Alleles Autism Spectrum Disorder Child Child, Preschool Fragile X Mental Retardation Protein Fragile X Syndrome Genetic Predisposition To Disease Genetic Testing Humans Male Mutation Young Adult |
title_short |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil |
title_full |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil |
title_fullStr |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil |
title_full_unstemmed |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil |
title_sort |
Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil |
author |
Ferreira, Jorge Frank B. |
author_facet |
Ferreira, Jorge Frank B. Batista, Jacqueline S. Fantin, Cleiton |
author_role |
author |
author2 |
Batista, Jacqueline S. Fantin, Cleiton |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Ferreira, Jorge Frank B. Batista, Jacqueline S. Fantin, Cleiton |
dc.subject.eng.fl_str_mv |
Fmr1 Protein, Human Fragile X Mental Retardation Protein Adolescent Allele Autism Child Fragile X Syndrome Genetic Predisposition Genetic Screening Genetics Human Male Mutation Child, Preschool Young Adult Adolescent Alleles Autism Spectrum Disorder Child Child, Preschool Fragile X Mental Retardation Protein Fragile X Syndrome Genetic Predisposition To Disease Genetic Testing Humans Male Mutation Young Adult |
topic |
Fmr1 Protein, Human Fragile X Mental Retardation Protein Adolescent Allele Autism Child Fragile X Syndrome Genetic Predisposition Genetic Screening Genetics Human Male Mutation Child, Preschool Young Adult Adolescent Alleles Autism Spectrum Disorder Child Child, Preschool Fragile X Mental Retardation Protein Fragile X Syndrome Genetic Predisposition To Disease Genetic Testing Humans Male Mutation Young Adult |
description |
Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to be clinically and molecularly trialled for FXS due to the high levels of comorbidity between both conditions and also due to the variable expressiveness of this syndrome. This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this gene could offer new therapeutic or pharmacological methods for the treatment of these patients. Both the presence and the frequency of CGG expansions were verified in 90 autism males by molecular analysis. Four of them had intermediate alleles and four others presented premutated alleles. Premutation carriers are on the propensity of developing the late onset Fragile X-associated tremor/ataxia syndrome. No full mutation alleles were found. Further studies are necessary to obtain more accurate statistical data about this kind of dynamic mutation. © 2019, Academia Brasileira de Ciencias. All rights reserved. |
publishDate |
2019 |
dc.date.issued.fl_str_mv |
2019 |
dc.date.accessioned.fl_str_mv |
2020-05-07T13:44:09Z |
dc.date.available.fl_str_mv |
2020-05-07T13:44:09Z |
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https://repositorio.inpa.gov.br/handle/1/14886 |
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10.1590/0001-3765201920180882 |
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https://repositorio.inpa.gov.br/handle/1/14886 |
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10.1590/0001-3765201920180882 |
dc.language.iso.fl_str_mv |
eng |
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Volume 91, Número 3 |
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Attribution-NonCommercial-NoDerivs 3.0 Brazil http://creativecommons.org/licenses/by-nc-nd/3.0/br/ info:eu-repo/semantics/openAccess |
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Anais da Academia Brasileira de Ciências |
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