Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/100247
Citations
Scopus Web of Science® Altmetric
?
?
Type: Journal article
Title: The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
Author: Koolen, D.
Pfundt, R.
Linda, K.
Beunders, G.
Veenstra-Knol, H.
Conta, E.
Fortuna, A.
Gillessen-Kaesbach, G.
Dugan, S.
Halbach, S.
Abdul-Rahman, O.
Winesett, H.
Chung, W.
Dalton, M.
Dimova, P.
Mattina, T.
Prescott, K.
Zhang, H.
Saal, H.
Hehir-Kwa, J.
et al.
Citation: European Journal of Human Genetics, 2016; 24(5):652-659
Publisher: Nature Publishing Group
Issue Date: 2016
ISSN: 1018-4813
1476-5438
Statement of
Responsibility: 
David A. Koolen ... Elizabeth M. Thompson ... Jozef Gecz ... et al.
Abstract: The 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.
Keywords: KNSL1
Rights: © 2016 Macmillan Publishers Limited All rights reserved
RMID: 0030034319
DOI: 10.1038/ejhg.2015.178
Grant ID: http://purl.org/au-research/grants/nhmrc/628952
http://purl.org/au-research/grants/nhmrc/1041920
Appears in Collections:Paediatrics publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.