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Lookup NU author(s): Dr Ana TopfORCiD, Sunitha Balaraju, Rachel ThompsonORCiD, Dr Andreas Roos, Professor Hanns Lochmuller, Professor Rita HorvathORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2019, The Author(s).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.
Author(s): Topf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Gungor S, Lochmuller H, Hiz S, Horvath R
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2020
Volume: 28
Pages: 383–387
Print publication date: 01/03/2020
Online publication date: 26/09/2019
Acceptance date: 02/04/2019
Date deposited: 04/11/2019
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: https://doi.org/10.1038/s41431-019-0519-x
DOI: 10.1038/s41431-019-0519-x
PubMed id: 31558842
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