Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12779/6525
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dc.contributor.authorBianciardi, Lauraen_us
dc.contributor.authorFichera, Marcoen_us
dc.contributor.authorFailla, Pinellaen_us
dc.contributor.authorDi Marco, Chiaraen_us
dc.contributor.authorGrozeva, Detelinaen_us
dc.contributor.authorMencarelli, Maria Antoniettaen_us
dc.contributor.authorSpiga, Ottaviaen_us
dc.contributor.authorMari, Francescaen_us
dc.contributor.authorMeloni, Ilariaen_us
dc.contributor.authorRaymond, Lucyen_us
dc.contributor.authorRenieri, Alessandraen_us
dc.contributor.authorRomano, Corradoen_us
dc.contributor.authorAriani, Francescaen_us
dc.date.accessioned2021-03-30T16:03:56Z-
dc.date.available2021-03-30T16:03:56Z-
dc.date.issued2015-
dc.identifier.issn1434-5161en_US
dc.identifier.urihttp://hdl.handle.net/20.500.12779/6525-
dc.description111820en_US
dc.description.abstractMethyl-CpG-binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling. Mutations in MECP2 in females are associated with Rett syndrome, a neurological disorder characterized by a normal neonatal period, followed by the arrest of development and regression of acquired skills. Although it was initially thought that MECP2 pathogenic mutations in males were not compatible with life, starting from 1999 about 60 male patients have been identified and their phenotype varies from severe neonatal encephalopathy to mild intellectual disability. Targeted next-generation sequencing of a panel of intellectual disability related genes was performed on two unrelated male patients, and two missense variants in MECP2 were identified (p.Gly185Val and p.Arg167Trp). These variants lie outside the canonical methyl-CpG-binding domain and transcription repression domain domains, where the pathogenicity of missense variants is more difficult to establish. In both families, variants were found in all affected siblings and were inherited from the asymptomatic mother, showing skewed X-chromosome inactivation. We report here the first missense variant located in AT-hook domain 1 and we underline the importance of MECP2 substitutions outside the canonical MeCP2 domains in X-linked intellectual disability.Journal of Human Genetics advance online publication, 22 October 2015; doi:10.1038/jhg.2015.118.en_US
dc.language.isoenen_US
dc.relationNoneen_US
dc.relation.ispartofJOURNAL OF HUMAN GENETICSen_US
dc.titleMECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disabilityen_US
dc.typeArticleen_US
dc.identifier.doi10.1038/jhg.2015.118en_US
dc.identifier.pmid26490184en_US
dc.identifier.scopus2-s2.0-84959263214en_US
dc.relation.volume61en_US
dc.relation.issue2en_US
dc.description.firstpage95en_US
dc.description.lastpage101en_US
dc.description.thirdmissionNot applicableen_US
item.cerifentitytypePublications-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.openairetypeArticle-
item.fulltextNo Fulltext-
crisitem.author.orcid0000-0002-0263-7107-
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