Please use this identifier to cite or link to this item: https://hdl.handle.net/1822/67637

TitleMutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients
Author(s)Santos, Mónica
Temudo, Teresa
Kay, Teresa
Carrilho, Inês
Medeira, Ana
Cabral, Helena
Gomes, Roseli
Lourenço, Maria Teresa
Venâncio, Margarida
Calado, Eulália
Moreira, Ana
Oliveira, Guiomar
Maciel, P.
KeywordsAdolescent
Brain
Child
Child, Preschool
DNA Mutational Analysis
Developmental Disabilities
Humans
Magnetic Resonance Imaging
Male
Methyl-CpG-Binding Protein 2
Mutation
Phenotype
Rett Syndrome
Young Adult
Autism
Neurodevelopment
Rett
Issue dateJan-2009
PublisherSAGE Publications
JournalJournal of Child Neurology
Abstract(s)Rett 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.
TypeArticle
URIhttps://hdl.handle.net/1822/67637
DOI10.1177/0883073808321043
ISSN0883-0738
e-ISSN1708-8283
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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