Article
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review.
Clinical genetics - 1 May 2018
van den Akker W M R, Brummelman I, Martis L M, Timmermans R N, Pfundt R, Kleefstra T, Willemsen M H, Gerkes E H, Herkert J C, van Essen A J, Rump P, Vansenne F, Terhal P A, van Haelst M M, Cristian I, Turner C E, Cho M T, Begtrup A, Willaert R, Fassi E, van Gassen K L I, Stegmann A P A, de Vries B B A, Schuurs-Hoeijmakers J H M
Abstract excerpt
De novo variants in the gene encoding cyclin-dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID). Here, we present the clinical assessment of 15 individuals and report novel de novo missense variants within the kinase domain of CDK13. Furthermore, we describe 2 nonsense variants and a recurrent frame-shift variant. We demonstrate the synthesis of 2...
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