Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/337286
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampPeluzzo, Thiago Mazzo-
dc.contributor.authorunicampBonadia, Luciana Cardoso-
dc.contributor.authorunicampDonatti, Amanda-
dc.contributor.authorunicampMolck, Miriam Coelho-
dc.contributor.authorunicampLopes-Cendes, Íscia Teresinha-
dc.contributor.authorunicampFranca Junior, Marcondes Cavalcante-
dc.typeArtigopt_BR
dc.titleFrequency and genetic profile of compound heterozygous Friedreich's ataxia patients-the brazilian experiencept_BR
dc.contributor.authorPeluzzo, Thiago Mazzo-
dc.contributor.authorBonadia, Luciana Cardoso-
dc.contributor.authorDonatti, Amanda-
dc.contributor.authorMolck, Miriam Coelho-
dc.contributor.authorJardim, Laura Bannach-
dc.contributor.authorMarques, Wilson Jr.-
dc.contributor.authorLopes-Cendes, Iscia Teresinha-
dc.contributor.authorFranca, Marcondes C. Jr.-
dc.subjectAtaxia de Friedreichpt_BR
dc.subject.otherlanguageFriedreich Ataxiapt_BR
dc.description.abstractFriedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It is caused by a homozygous GAA expansion in the first intron of the frataxin gene (FXN) (OMIM: 606829) in 96% of the affected individuals. The remaining patients have a GAA expansion in one allele and a point mutation in the other. Little is known about compound heterozygous patients outside Europe and North America. We have thus designed a study to determine the frequency and mutational profile of these patients in Brazil. To accomplish that, we recruited all patients with ataxia and at least one expanded GAA allele at FXN from 3 national reference centers. We identified those subjects with a single expansion and proceeded with further genetic testing (Sanger sequencing and CGH arrays) for those. There were 143 unrelated patients (128 families), five of which had a single expanded allele. We identified point mutations in three out of these five (3/128 = 2.34%). Two patients had the c.157delC variant, whereas one individual had the novel variant c.482+1G>T. These results indicate that FXN point mutations are rare, but exist in Brazilian patients with FRDA. This has obvious implications for diagnostic testing and genetic counseling.pt_BR
dc.relation.ispartofThe cerebellumpt_BR
dc.relation.ispartofabbreviationCerebellumpt_BR
dc.publisher.cityNew York, NYpt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherSpringer Naturept_BR
dc.date.issued2019-
dc.date.monthofcirculationJunept_BR
dc.language.isoengpt_BR
dc.description.volume18pt_BR
dc.description.issuenumber6pt_BR
dc.description.firstpage1143pt_BR
dc.description.lastpage1146pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn1473-4222pt_BR
dc.identifier.eissn1473-4230pt_BR
dc.identifier.doi10.1007/s12311-019-01055-zpt_BR
dc.identifier.urlhttps://link.springer.com/article/10.1007%2Fs12311-019-01055-zpt_BR
dc.description.sponsorshipCOORDENAÇÃO DE APERFEIÇOAMENTO DE PESSOAL DE NÍVEL SUPERIOR - CAPESpt_BR
dc.description.sponsorshipFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPpt_BR
dc.description.sponsordocumentnumberSem informaçãopt_BR
dc.description.sponsordocumentnumber2013/01766-7pt_BR
dc.date.available2020-03-24T18:14:19Z-
dc.date.accessioned2020-03-24T18:14:19Z-
dc.description.provenanceSubmitted by Bruna Maria Campos da Cunha (bcampos@unicamp.br) on 2020-03-24T18:14:19Z No. of bitstreams: 0. Added 1 bitstream(s) on 2020-07-20T14:20:13Z : No. of bitstreams: 1 000502725000011.pdf: 383552 bytes, checksum: 7c9978dc8a325562210d205505772c42 (MD5)en
dc.description.provenanceMade available in DSpace on 2020-03-24T18:14:19Z (GMT). No. of bitstreams: 0 Previous issue date: 2019en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/337286-
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentDepartamento de Genética Médicapt_BR
dc.contributor.departmentDepartamento de Neurologiapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.subject.keywordCompound heterozygouspt_BR
dc.subject.keywordFRDA mutationpt_BR
dc.subject.keywordGenetic counselingpt_BR
dc.identifier.source000502725000011pt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcidorcid.org/0000-0002-6221-6822pt_BR
dc.creator.orcidorcid.org/0000-0003-0898-2419pt_BR
dc.type.formArtigopt_BR
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