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dc.contributor.authorvan Bon, Bregje WM
dc.contributor.authorKoolen, David A
dc.contributor.authorBrueton, Louise
dc.contributor.authorMcMullan, Dominic
dc.contributor.authorLichtenbelt, Klaske D
dc.contributor.authorAdes, Lesley C
dc.contributor.authorPeters, Gregory
dc.contributor.authorGibson, Kate
dc.contributor.authorNovara, Francesca
dc.contributor.authorPramparo, Tiziano
dc.contributor.authorDalla Bernardina, Bernardo
dc.contributor.authorZoccante, Leonardo
dc.contributor.authorBalottin, Umberto
dc.contributor.authorPiazza, Fausta
dc.contributor.authorPecile, Vanna
dc.contributor.authorGasparini, Paolo
dc.contributor.authorGuerci, Veronica
dc.contributor.authorKets, Marleen
dc.contributor.authorPfundt, Rolph
dc.contributor.authorde Brouwer, Arjan P
dc.contributor.authorVeltman, Joris A
dc.contributor.authorde Leeuw, Nicole
dc.contributor.authorWilson, Meredith
dc.contributor.authorAntony, Jayne
dc.contributor.authorReitano, Santina
dc.contributor.authorLuciano, Daniela
dc.contributor.authorFichera, Marco
dc.contributor.authorRomano, Corrado
dc.contributor.authorBrunner, Han G
dc.contributor.authorZuffardi, Orsetta
dc.contributor.authorde Vries, Bert BA
dc.date.accessioned2017-05-03T14:18:53Z
dc.date.available2017-05-03T14:18:53Z
dc.date.issued2010
dc.date.modified2010-10-14T07:46:23Z
dc.identifier.issn1018-4813
dc.identifier.doi10.1038/ejhg.2009.152
dc.identifier.urihttp://hdl.handle.net/10072/34643
dc.description.abstractSix submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1 deletion patients and a clinical update on two previously reported patients. All patients were mentally retarded with pronounced speech delay and additional abnormalities including short stature, seizures, microcephaly and coarse facies. The majority of cases presented with stereotypic repetitive behaviour, a disturbed sleep pattern and a broad-based gait. These features led to the initial clinical impression of Angelman, Rett or Smith-Magenis syndromes in several patients. The overlapping 2q23.1 deletion region in all 15 patients comprises only one gene, namely, MBD5. Interestingly, MBD5 is a member of the methyl CpG-binding domain protein family, which also comprises MECP2, mutated in Rett's syndrome. Another gene in the 2q23.1 region, EPC2, was deleted in 12 patients who had a broader phenotype than those with a deletion of MBD5 only. EPC2 is a member of the polycomb protein family, involved in heterochromatin formation and might be involved in causing MR. Patients with a 2q23.1 microdeletion present with a variable phenotype and the diagnosis should be considered in mentally retarded children with coarse facies, seizures, disturbed sleeping patterns and additional specific behavioural problems.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherNature Publishing Group
dc.publisher.placeUnited Kingdom
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom163
dc.relation.ispartofpageto170
dc.relation.ispartofjournalEuropean Journal of Human Genetics
dc.relation.ispartofvolume18
dc.rights.retentionY
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchcode3105
dc.subject.fieldofresearchcode3202
dc.titleThe 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.date.issued2010
gro.hasfulltextNo Full Text
gro.griffith.authorMoloney, Susan


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