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: | Anais da Academia Brasileira de Ciências (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000500805 |
Resumo: | Abstract: 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. |
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Screening for FMR1 expanded alleles in patients with Autism Spectrum Disorders in Manaus, Northern Brazilautism spectrum disordersdynamic mutationfragile X syndromemolecular screeningpremutationtrinucleotide repeatsAbstract: 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.Academia Brasileira de Ciências2019-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000500805Anais da Academia Brasileira de Ciências v.91 n.3 2019reponame:Anais da Academia Brasileira de Ciências (Online)instname:Academia Brasileira de Ciências (ABC)instacron:ABC10.1590/0001-3765201920180882info:eu-repo/semantics/openAccessFERREIRA,JORGE F.B.BATISTA,JACQUELINE S.FANTIN,CLEITONeng2019-09-20T00:00:00Zoai:scielo:S0001-37652019000500805Revistahttp://www.scielo.br/aabchttps://old.scielo.br/oai/scielo-oai.php||aabc@abc.org.br1678-26900001-3765opendoar:2019-09-20T00:00Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC)false |
dc.title.none.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 F.B. autism spectrum disorders dynamic mutation fragile X syndrome molecular screening premutation trinucleotide repeats |
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 F.B. |
author_facet |
FERREIRA,JORGE F.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 F.B. BATISTA,JACQUELINE S. FANTIN,CLEITON |
dc.subject.por.fl_str_mv |
autism spectrum disorders dynamic mutation fragile X syndrome molecular screening premutation trinucleotide repeats |
topic |
autism spectrum disorders dynamic mutation fragile X syndrome molecular screening premutation trinucleotide repeats |
description |
Abstract: 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. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000500805 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652019000500805 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0001-3765201920180882 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Academia Brasileira de Ciências |
publisher.none.fl_str_mv |
Academia Brasileira de Ciências |
dc.source.none.fl_str_mv |
Anais da Academia Brasileira de Ciências v.91 n.3 2019 reponame:Anais da Academia Brasileira de Ciências (Online) instname:Academia Brasileira de Ciências (ABC) instacron:ABC |
instname_str |
Academia Brasileira de Ciências (ABC) |
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ABC |
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ABC |
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Anais da Academia Brasileira de Ciências (Online) |
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Anais da Academia Brasileira de Ciências (Online) |
repository.name.fl_str_mv |
Anais da Academia Brasileira de Ciências (Online) - Academia Brasileira de Ciências (ABC) |
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||aabc@abc.org.br |
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1754302867731120128 |