Severe neurodevelopmental disease caused by a homozygous TLK2 variant

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dc.authoridHorvath, Rita/0000-0002-9841-170X
dc.authoridYilmaz, Elmasnur/0000-0001-9711-0203
dc.authoridThompson, Rachel/0000-0002-6889-0121
dc.authoridMacArthur, Daniel/0000-0002-5771-2290
dc.authoridOktay, Yavuz/0000-0002-0158-2693
dc.authorwosidYılmaz, Elmasnur/ABH-3317-2020
dc.authorwosidMacArthur, Daniel G/E-3275-2010
dc.authorwosidHorvath, Rita/AAY-7042-2020
dc.authorwosidOktay, Yavuz/G-4794-2015
dc.contributor.authorTopf, Ana
dc.contributor.authorOktay, Yavuz
dc.contributor.authorBalaraju, Sunitha
dc.contributor.authorYilmaz, Elmasnur
dc.contributor.authorSonmezler, Ece
dc.contributor.authorYis, Uluc
dc.contributor.authorLaurie, Steven
dc.date.accessioned2024-08-04T20:46:53Z
dc.date.available2024-08-04T20:46:53Z
dc.date.issued2020
dc.departmentİnönü Üniversitesien_US
dc.description.abstractA 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.en_US
dc.description.sponsorshipTUBITAK (The Scientific and Technological Research Council of Turkey) [216S771]; Wellcome Centre for Mitochondrial Research [203105/Z/16/Z, 109915/Z/15/Z]; Medical Research Council (UK) [MR/N025431/1]; European Research Council [309548]; Newton Fund (UK/Turkey) [MR/N027302/1]; Wellcome Trust Pathfinder Scheme [201064/Z/16/Z]; National Human Genome Research Institute [UM1 HG008900]; National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) programme; National Eye Institute; RD-Connect Genome-Phenome Analysis platform developed under FP7/2007-2013 [305444]; MRC [MR/N025431/1, MR/N025431/2, MR/N010035/1, G1000848] Funding Source: UKRI; Newton Fund [MR/N027302/1, MR/N027302/2] Funding Source: UKRIen_US
dc.description.sponsorshipThe 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). We thank the Broad Institute for carrying out WES. 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).en_US
dc.identifier.doi10.1038/s41431-019-0519-x
dc.identifier.endpage387en_US
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.issue3en_US
dc.identifier.pmid31558842en_US
dc.identifier.scopus2-s2.0-85074045742en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage383en_US
dc.identifier.urihttps://doi.org/10.1038/s41431-019-0519-x
dc.identifier.urihttps://hdl.handle.net/11616/99000
dc.identifier.volume28en_US
dc.identifier.wosWOS:000515027800014en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keywords]en_US
dc.titleSevere neurodevelopmental disease caused by a homozygous TLK2 varianten_US
dc.typeArticleen_US

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