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Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients

2009-01Journal article Open access
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dc.contributor.authorSantos, M
dc.contributor.authorTemudo, T
dc.contributor.authorKay, T
dc.contributor.authorCarrilho, I
dc.contributor.authorMedeira, A
dc.contributor.authorCabral, H
dc.contributor.authorGomes, R
dc.contributor.authorLourenço, T
dc.contributor.authorVenâncio, M
dc.contributor.authorCalado, E
dc.contributor.authorMoreira, A
dc.contributor.authorOliveira, G
dc.contributor.authorMaciel, P
dc.date.accessioned2016-05-24T14:19:29Z
dc.date.available2016-05-24T14:19:29Z
dc.date.issued2009-01
dc.description.abstractRett syndrome is a genetic neurodevelopmental disorder that affects mainly girls, but mutations in the causative MECP2 gene have also been identified in boys with classic Rett syndrome and Rett syndrome-like phenotypes. We have studied a group of 28 boys with a neurodevelopmental disorder, 13 of which with a Rett syndrome-like phenotype; the patients had diverse clinical presentations that included perturbations of the autistic spectrum, microcephaly, mental retardation, manual stereotypies, and epilepsy. We analyzed the complete coding region of the MECP2 gene, including the detection of large rearrangements, and we did not detect any pathogenic mutations in the MECP2 gene in these patients, in whom the genetic basis of disease remained unidentified. Thus, additional genes should be screened in this group of patients.pt_PT
dc.identifier.citationJ Child Neurol. 2009 Jan;24(1):49-55pt_PT
dc.identifier.doi10.1177/0883073808321043pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2501
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSage Publicationspt_PT
dc.subjectAdolescentpt_PT
dc.subjectBrainpt_PT
dc.subjectChildpt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectDNA Mutational Analysispt_PT
dc.subjectDevelopmental Disabilitiespt_PT
dc.subjectHumanspt_PT
dc.subjectMagnetic Resonance Imagingpt_PT
dc.subjectMalept_PT
dc.subjectMethyl-CpG-Binding Protein 2pt_PT
dc.subjectMutationpt_PT
dc.subjectPhenotypept_PT
dc.subjectRett Syndromept_PT
dc.subjectYoung Adultpt_PT
dc.subjectHDE GENpt_PT
dc.subjectHDE NEU PEDpt_PT
dc.titleMutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage55pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage49pt_PT
oaire.citation.titleJournal of child neurologypt_PT
oaire.citation.volume24pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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