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. 2020 Oct 16;10:17575. doi: 10.1038/s41598-020-74642-4

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© The Author(s) 2020

Open Access 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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Schema of the CDK8 protein and clinical characteristics of our two patients with CDK8-associated disorder. (a) Schema of human CDK8 protein (the upper schema) and zebrafish Cdk8 protein (the lower schema). The grey box indicates the kinase domain. The black boxes indicate the T-loop in the kinase domain. The arrows point to the mutations of the 2 reported patients. (b) Patient 1 at 8 months of age. (c) Patient 2 at 8 years of age. In 1b, note the prominent forehead with large anterior fontanelle, arched eyebrow, hypertelorism, epicanthal folds, low-set ears, prominent antihelix, short philtrum, flat nasal bridge, high arched palate, down-turned corners of the mouth, micrognathia, webbed neck, and overlapping toes on the left foot. In 1c, note the hypertelorism, epicanthal folds, wide nasal bridge, protruding ears, bifid uvula, and micrognathia.