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dc.contributor.authorRodenas-Cuadrado, Pedro
dc.contributor.authorPietrafusa, Nicola
dc.contributor.authorFrancavilla, Teresa
dc.contributor.authorLa Neve, Angela
dc.contributor.authorStriano, Pasquale
dc.contributor.authorVernes, Sonja C
dc.date.accessioned2021-03-24T12:30:08Z
dc.date.available2021-03-24T12:30:08Z
dc.date.issued2016-02-03
dc.identifier.citationRodenas-Cuadrado , P , Pietrafusa , N , Francavilla , T , La Neve , A , Striano , P & Vernes , S C 2016 , ' Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment ' , BMC Medical Genetics , vol. 17 , 8 . https://doi.org/10.1186/s12881-016-0272-8en
dc.identifier.issn1471-2350
dc.identifier.otherPURE: 272112579
dc.identifier.otherPURE UUID: 94f4e681-dffe-4c3f-806e-ee7d9dddba5d
dc.identifier.otherPubMed: 26843181
dc.identifier.otherPubMedCentral: PMC4739328
dc.identifier.otherScopus: 84956640101
dc.identifier.otherORCID: /0000-0003-0305-4584/work/86538535
dc.identifier.urihttp://hdl.handle.net/10023/21700
dc.descriptionThis work was supported by a Marie Curie Career Integration Grant awarded to S.C.V. and by the Max Planck Society. We are grateful to the family for their consent in undertaking this study.en
dc.description.abstractBackground: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTNAP2 mutations are also found in the normal population. Conversely, homozygous mutations are rare in patient populations and have not been found in any unaffected individuals. Case presentation: We describe a consanguineous family carrying a deletion in CNTNAP2 predicted to abolish function of its protein product, CASPR2. Homozygous family members display epilepsy, facial dysmorphisms, severe intellectual disability and impaired language. We compared these patients with previously reported individuals carrying homozygous mutations in CNTNAP2 and identified a highly recognisable phenotype. Conclusions: We propose that CASPR2 loss produces a syndrome involving early-onset refractory epilepsy, intellectual disability, language impairment and autistic features that can be recognized as CASPR2 deficiency disorder. Further screening for homozygous patients meeting these criteria, together with detailed phenotypic and molecular investigations will be crucial for understanding the contribution of CNTNAP2 to normal and disrupted development.
dc.format.extent7
dc.language.isoeng
dc.relation.ispartofBMC Medical Geneticsen
dc.rightsCopyright © 2016 Rodenas-Cuadrado et al. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.en
dc.subjectAutistic disorder/geneticsen
dc.subjectChild, preschoolen
dc.subjectEpilepsy/geneticsen
dc.subjectFemaleen
dc.subjectGene deletionen
dc.subjectHeterozygoteen
dc.subjectHumansen
dc.subjectInfanten
dc.subjectIntellectual disability/geneticsen
dc.subjectLanguage disorders/geneticsen
dc.subjectMembrane proteins/deficiencyen
dc.subjectMutationen
dc.subjectNerve tissue proteins/deficiencyen
dc.subjectPedigreeen
dc.subjectPhenotypeen
dc.subjectSequence analysis, DNAen
dc.subjectSyndromeen
dc.subjectQH301 Biologyen
dc.subjectQH426 Geneticsen
dc.subjectRC0321 Neuroscience. Biological psychiatry. Neuropsychiatryen
dc.subject.lccQH301en
dc.subject.lccQH426en
dc.subject.lccRC0321en
dc.titleCharacterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairmenten
dc.typeJournal articleen
dc.description.versionPublisher PDFen
dc.contributor.institutionUniversity of St Andrews. School of Biologyen
dc.identifier.doihttps://doi.org/10.1186/s12881-016-0272-8
dc.description.statusPeer revieweden


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