Spinal muscular atrophy due to a de novo 1.3 Mb deletion: Implication for genetic counseling

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dc.contributor.authorJacy da Silva, Luciana Rodrigues [UNIFESP]
dc.contributor.authorStephano Colovati, Mileny Esbravatti [UNIFESP]
dc.contributor.authorCoprerski, Bruno [UNIFESP]
dc.contributor.authorFernandez de Andrade, Carlos Eugenio
dc.contributor.authorZanoteli, Edmar
dc.contributor.authorRaskin, Salmo
dc.contributor.authorOliveira, Mariana Moyses [UNIFESP]
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.authorAlvarez Perez, Ana Beatriz [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionSanta Marcelina Hosp
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionGenetika
dc.date.accessioned2016-01-24T14:31:42Z
dc.date.available2016-01-24T14:31:42Z
dc.date.issued2013-05-01
dc.description.abstractWe report a 3-year-old female with type I spinal muscular atrophy (SMA) born to a young and non-consanguineous couple. the child presented at two months of life with intense muscle weakness affecting predominantly proximal portions of the limbs, especially the legs, muscle hypotonia, fasciculation of the tongue, and severe respiratory muscle involvement. She remained in an intensive care unit with an assisted ventilation system from the fourth month of life. She died at 3 years of age from pulmonary infection. Molecular analysis confirmed the diagnosis of SMA but revealed that only the father was an asymptomatic carrier. Because SMN1 is mapped in a complex region containing repetitive elements due to an inverted duplication of approximately 500 kb, we carry out an SNP array and detected a 1.3 Mb deletion including the SMN1 and SMN2 genes that explain the disease. (C) 2013 Elsevier B.V. All rights reserved.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Morphol & Genet, Ctr Med Genet, BR-04020041 São Paulo, Brazil
dc.description.affiliationSanta Marcelina Hosp, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Sch Med, Dept Neurol, São Paulo, Brazil
dc.description.affiliationGenetika, Genet Counseling & Genet Lab, Curitiba, Parana, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Morphol & Genet, BR-04020041 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Morphol & Genet, Ctr Med Genet, BR-04020041 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Morphol & Genet, BR-04020041 São Paulo, Brazil
dc.description.provenanceMade available in DSpace on 2016-01-24T14:31:42Z (GMT). No. of bitstreams: 0 Previous issue date: 2013-05-01en
dc.description.sourceWeb of Science
dc.format.extent388-390
dc.identifierhttp://dx.doi.org/10.1016/j.nmd.2013.01.009
dc.identifier.citationNeuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 23, n. 5, p. 388-390, 2013.
dc.identifier.doi10.1016/j.nmd.2013.01.009
dc.identifier.issn0960-8966
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/36297
dc.identifier.wosWOS:000318749400002
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofNeuromuscular Disorders
dc.rightsAcesso restrito
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectSpinal muscular atrophyen
dc.subjectSNP arrayen
dc.subjectGenetic counselingen
dc.subjectSMN geneen
dc.titleSpinal muscular atrophy due to a de novo 1.3 Mb deletion: Implication for genetic counselingen
dc.typeArtigo
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