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Article

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

American journal of human genetics - 6 Sept 2018

Fan Yanjie, Yin Wu, Hu Bing, Kline Antonie D, Zhang Victor Wei, Liang Desheng, Sun Yu, Wang Lili, Tang Sha, Powis Zöe, Li Lei, Yan Huifang, Shi Zhen, Yang Xiaoping, Chen Yinyin, Wang Jingmin, Jiang Yuwu, Tan Hu, Gu Xuefan, Wu Lingqian, Yu Yongguo

Abstract excerpt

Neurodevelopment is a transcriptionally orchestrated process. Cyclin K, a regulator of transcription encoded by CCNK, is thought to play a critical role in the RNA polymerase II-mediated activities. However, dysfunction of CCNK has not been linked to genetic disorders. In this study, we identified three unrelated individuals harboring de novo heterozygous copy number loss of CCNK in an overlapping 14q32.3 region...

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Identifiers

PMID: 30122539
DOI: 10.1016/j.ajhg.2018.07.019
PMCID: PMC6128244

Genes

CCNK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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