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dc.contributor.authorCeroni, Fabiola
dc.contributor.authorSimpson, Nuala H.
dc.contributor.authorFrancks, Clyde
dc.contributor.authorBaird, Gillian
dc.contributor.authorConti-Ramsden, Gina
dc.contributor.authorClark, Ann
dc.contributor.authorBolton, Patrick F.
dc.contributor.authorHennessy, Elizabeth R.
dc.contributor.authorDonnelly, Peter
dc.contributor.authorBentley, David R.
dc.contributor.authorMartin, Hilary
dc.contributor.authorParr, Jeremy
dc.contributor.authorPagnamenta, Alistair T.
dc.contributor.authorMaestrini, Elena
dc.contributor.authorBacchelli, Elena
dc.contributor.authorFisher, Simon E.
dc.contributor.authorNewbury, Dianne F.
dc.date.accessioned2018-06-29T15:51:09Z
dc.date.available2018-06-29T15:51:09Z
dc.date.issued2014-02
dc.identifierER3409
dc.identifier.citationCeroni, F., Simpson, N., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P., Hennessy, E., Donnelly, P., Bentley, D., Martin, H., Parr, J., Pagnamenta, A., Maestrini, E., Bacchelli, E., Fisher, S. & Newbury, D. (2014) Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment., European Journal of Human Genetics, vol. 22, , pp. 1165-1171,
dc.identifier.issn1018-4813, ESSN: 1476-5438
dc.identifier.urihttp://www.nature.com/ejhg/journal/v22/n10/pdf/ejhg20144a.pdf
dc.identifier.urihttps://eresearch.qmu.ac.uk/handle/20.500.12289/3409
dc.description.abstractSpecific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379-bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband's affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.
dc.description.abstractPaper adds to the growing body of evidence that children can acquire phonological systems before they are able to master the phonetic skills needed to convey the contrasts in that system
dc.format.extent1165-1171
dc.publisherNature Publishing Group
dc.relation.ispartofEuropean Journal of Human Genetics
dc.titleHomozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.
dc.typearticle
dcterms.accessRightsrestricted
dc.description.facultycasl
dc.description.volume22
dc.identifier.doihttp://10.1038/ejhg.2014.4
dc.description.ispublishedpub
dc.description.eprintid3409
rioxxterms.typearticle
qmu.authorClark, Ann
qmu.centreCASL
qmu.centreCASLen
dc.description.statuspub
dc.description.number10


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