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Article

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

American journal of human genetics - 6 Aug 2026

Lemire Gabrielle, Marshall Aren E, Patel Tejan S, Trejo Martinez Jonathan, Lerman-Sagie Tally, Mears Wendy, Wang Xueqi, Lev Dorit, Eaton Alison J, Bontempo Kelly, Angle Brad, Shannon Patrick, Blaser Susan, Boycott Kym M, Richer Julie, Chong Karen, Drivas Theodore G, Chitayat David

Abstract excerpt

CDK20, also known as CCRK, is a cyclin-dependent kinase that regulates cell growth, primary cilium structure, and Sonic Hedgehog signaling. CDK20 has not yet been associated with a known human disorder. In this report, we present a cohort of seven individuals from five unrelated families with bi-allelic variants in CDK20 and an overlapping phenotype of ventriculomegaly or hydrocephalus, midline brain anomalies,...

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Brain
Cilia
Ciliopathies
Cyclin-Dependent Kinases
Face

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hedgehog Proteins

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Identifiers

PMID: 42409022
DOI: 10.1016/j.ajhg.2026.06.009
PMCID: PMC13504332

Genes

CDK20

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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