Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

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dc.contributor.authorVieira, Gustavo H.
dc.contributor.authorRodriguez, Jayson D.
dc.contributor.authorCarmona-Mora, Paulina
dc.contributor.authorCao, Lei
dc.contributor.authorGamba, Bruno F.
dc.contributor.authorCarvalho, Daniel R.
dc.contributor.authorDuarte, Andréa de Rezende
dc.contributor.authorSantos, Suely R.
dc.contributor.authorSouza, Deise H. de
dc.contributor.authorDupont, Barbara R.
dc.contributor.authorWalz, Katherina
dc.contributor.authorMoretti-Ferreira, Danilo
dc.contributor.authorSrivastava, Anand K.
dc.contributor.institutionGreenwood Genetic Center
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversity of Miami
dc.contributor.institutionInstitute for Integrative Medicine
dc.contributor.institutionUniversidade Federal do Estado do Rio de Janeiro (UNIRIO)
dc.contributor.institutionClemson University
dc.date.accessioned2014-05-27T11:26:23Z
dc.date.available2014-05-27T11:26:23Z
dc.date.issued2012-02-01
dc.description.abstractSmith-Magenis syndrome (SMS) is a complex disorder whose clinical features include mild to severe intellectual disability with speech delay, growth failure, brachycephaly, flat midface, short broad hands, and behavioral problems. SMS is typically caused by a large deletion on 17p11.2 that encompasses multiple genes including the retinoic acid induced 1, RAI1, gene or a mutation in the RAI1 gene. Here we have evaluated 30 patients with suspected SMS and identified SMS-associated classical 17p11.2 deletions in six patients, an atypical deletion of ∼139 kb that partially deletes the RAI1 gene in one patient, and RAI1 gene nonsynonymous alterations of unknown significance in two unrelated patients. The RAI1 mutant proteins showed no significant alterations in molecular weight, subcellular localization and transcriptional activity. Clinical features of patients with or without 17p11.2 deletions and mutations involving the RAI1 gene were compared to identify phenotypes that may be useful in diagnosing patients with SMS. © 2012 Macmillan Publishers Limited All rights reserved.en
dc.description.affiliationJC Self Research Institute of Human Genetics Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646
dc.description.affiliationDepartment of Genetics University of São Paulo State, Botucatu, SP
dc.description.affiliationJohn P Hussman Institute for Human Genomics Miller School of Medicine University of Miami, Miami, FL
dc.description.affiliationDr John T Macdonald Foundation Department of Human Genetics Miller School of Medicine University of Miami, Miami, FL
dc.description.affiliationInstitute for Integrative Medicine Department of Fernando Figueira-IMIP, Recife, PE
dc.description.affiliationDepartment of Genetics and Molecular Biology Federal University of Rio de Janeiro State, Rio de Janeiro, RJ
dc.description.affiliationDepartment of Genetics and Biochemistry Clemson University, Clemson, SC
dc.format.extent148-154
dc.identifierhttp://dx.doi.org/10.1038/ejhg.2011.167
dc.identifier.citationEuropean Journal of Human Genetics, v. 20, n. 2, p. 148-154, 2012.
dc.identifier.doi10.1038/ejhg.2011.167
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.orcid0000-0002-9256-7623
dc.identifier.scopus2-s2.0-84855817378
dc.identifier.urihttp://hdl.handle.net/11449/73177
dc.language.isoeng
dc.relation.ispartofEuropean Journal of Human Genetics
dc.relation.ispartofjcr3.636
dc.relation.ispartofsjr1,842
dc.rights.accessRightsAcesso restrito
dc.sourceScopus
dc.subject17p11.2
dc.subjectarrayCGH
dc.subjectdeletion
dc.subjectmutation
dc.subjectRAI1
dc.subjectSmith-Magenis syndrome
dc.subjectG protein coupled receptor
dc.subjectretinoic acid induced 1
dc.subjectunclassified drug
dc.subjectadolescent
dc.subjectadult
dc.subjectcellular distribution
dc.subjectchild
dc.subjectchromosome 17p
dc.subjectclinical article
dc.subjectclinical feature
dc.subjectcomparative genomic hybridization
dc.subjectfemale
dc.subjectfluorescence in situ hybridization
dc.subjectgene deletion
dc.subjectgene mutation
dc.subjectgenetic screening
dc.subjecthuman
dc.subjectmale
dc.subjectmolecular weight
dc.subjectphenotype
dc.subjectpolymerase chain reaction
dc.subjectpriority journal
dc.subjectschool child
dc.subjectSmith Magenis syndrome
dc.subjecttranscription initiation
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAmino Acid Sequence
dc.subjectBase Sequence
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectChromosome Deletion
dc.subjectChromosomes, Human, Pair 17
dc.subjectDNA Copy Number Variations
dc.subjectFacies
dc.subjectFemale
dc.subjectGenetic Association Studies
dc.subjectGenotype
dc.subjectHumans
dc.subjectMale
dc.subjectMutation
dc.subjectPhenotype
dc.subjectSequence Deletion
dc.subjectSmith-Magenis Syndrome
dc.subjectTranscription Factors
dc.subjectYoung Adult
dc.titleDetection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndromeen
dc.typeArtigo
dcterms.licensehttp://www.nature.com/authors/policies/license.html
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt

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