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Severe neurodevelopmental disease caused by a homozygous TLK2 variant

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dc.contributor.author Topf, Ana
dc.contributor.author Oktay, Yavuz
dc.contributor.author Balaraju, Sunitha
dc.contributor.author Yilmaz, Elmasnur
dc.contributor.author Sonmezler, Ece
dc.contributor.author Yis, Uluc
dc.contributor.author Laurie, Steven, 1973-
dc.contributor.author Thompson, Rachel
dc.contributor.author Roos, Andreas
dc.contributor.author MacArthur, Daniel G.
dc.contributor.author Yaramis, Ahmet
dc.contributor.author Güngör, Serdal
dc.contributor.author Lochmüller, Hanns
dc.contributor.author Hiz, Semra
dc.contributor.author Horvath, Rita
dc.date.accessioned 2020-03-19T10:08:19Z
dc.date.available 2020-03-19T10:08:19Z
dc.date.issued 2020
dc.identifier.citation Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U et al. Severe neurodevelopmental disease caused by a homozygous TLK2 variant. Eur J Hum Genet. 2020 Mar; 28(3): 383-387. DOI: 10.1038/s41431-019-0519-x
dc.identifier.issn 1018-4813
dc.identifier.uri http://hdl.handle.net/10230/43952
dc.description.abstract A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2. Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including cerebellar vermis hypoplasia and West syndrome. Both parents are heterozygous for the variant and clinically unaffected highlighting that recessive variants in TLK2 can also be disease causing and may act through a different pathomechanism.
dc.description.sponsorship The project is supported by TUBITAK (The Scientific and Technological Research Council of Turkey) Project No. 216S771. RH is a Wellcome Trust Investigator (109915/Z/15/Z), who receives support from the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), Medical Research Council (UK) (MR/N025431/1), the European Research Council (309548), the Wellcome Trust Pathfinder Scheme (201064/Z/16/Z) and the Newton Fund (UK/Turkey, MR/N027302/1). The Broad Centre for Mendelian Genomics (UM1 HG008900) is funded by the National Human Genome Research Institute with supplemental funding provided by the National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) programme and the National Eye Institute. Data were analysed using the RD-Connect Genome-Phenome Analysis platform developed under FP7/2007-2013 funded project (grant agreement no. 305444)
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartof European Journal of Human Genetics. 2020 Mar; 28(3): 383-7
dc.rights This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.subject.other Trastorns del neurodesenvolupament
dc.subject.other Genètica
dc.subject.other Proteïnes
dc.title Severe neurodevelopmental disease caused by a homozygous TLK2 variant
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41431-019-0519-x
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/309548
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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