Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/100247
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dc.contributor.authorKoolen, D.en
dc.contributor.authorPfundt, R.en
dc.contributor.authorLinda, K.en
dc.contributor.authorBeunders, G.en
dc.contributor.authorVeenstra-Knol, H.en
dc.contributor.authorConta, E.en
dc.contributor.authorFortuna, A.en
dc.contributor.authorGillessen-Kaesbach, G.en
dc.contributor.authorDugan, S.en
dc.contributor.authorHalbach, S.en
dc.contributor.authorAbdul-Rahman, O.en
dc.contributor.authorWinesett, H.en
dc.contributor.authorChung, W.en
dc.contributor.authorDalton, M.en
dc.contributor.authorDimova, P.en
dc.contributor.authorMattina, T.en
dc.contributor.authorPrescott, K.en
dc.contributor.authorZhang, H.en
dc.contributor.authorSaal, H.en
dc.contributor.authorHehir-Kwa, J.en
dc.contributor.authoret al.en
dc.date.issued2016en
dc.identifier.citationEuropean Journal of Human Genetics, 2016; 24(5):652-659en
dc.identifier.issn1018-4813en
dc.identifier.issn1476-5438en
dc.identifier.urihttp://hdl.handle.net/2440/100247-
dc.description.abstractThe Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. The syndrome is caused by a truncating variant in the KAT8 regulatory NSL complex unit 1 (KANSL1) gene or by a 17q21.31 microdeletion encompassing KANSL1. Herein we describe a novel cohort of 45 individuals with KdVS of whom 33 have a 17q21.31 microdeletion and 12 a single-nucleotide variant (SNV) in KANSL1 (19 males, 26 females; age range 7 months to 50 years). We provide guidance about the potential pitfalls in the laboratory testing and emphasise the challenges of KANSL1 variant calling and DNA copy number analysis in the complex 17q21.31 region. Moreover, we present detailed phenotypic information, including neuropsychological features, that contribute to the broad phenotypic spectrum of the syndrome. Comparison of the phenotype of both the microdeletion and SNV patients does not show differences of clinical importance, stressing that haploinsufficiency of KANSL1 is sufficient to cause the full KdVS phenotype.en
dc.description.statementofresponsibilityDavid A. Koolen ... Elizabeth M. Thompson ... Jozef Gecz ... et al.en
dc.language.isoenen
dc.publisherNature Publishing Groupen
dc.rights© 2016 Macmillan Publishers Limited All rights reserveden
dc.subjectKNSL1en
dc.titleThe Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence varianten
dc.typeJournal articleen
dc.identifier.rmid0030034319en
dc.identifier.doi10.1038/ejhg.2015.178en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/628952en
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/1041920en
dc.identifier.pubid207326-
pubs.library.collectionPaediatrics publicationsen
pubs.library.teamDS14en
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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