Autosomal recessive mutations of the CDK10 gene have been revealed as causing a newly described syndrome characterized by a combination of severe growth retardation, dysmorphic facial features, spine malformation and developmental delay. CDK10 belongs to the group of CDK protein kinases, which play important roles in cell cycle control, transcription and development, and it has been known to form a complex with cyclin M to phosphorylate substrates such as the transcription factor ETS2 and the protein kinase PKN2. The authors of the study recently published in the American Journal of Human Genetics performed comprehensive functional investigations including a knockout mouse model. They confirmed the human phenotype and the pathogenicity of the CDK10 mutations identified in their patients and uncovered important details on the molecular etiology.

The nine patients originated from five families and were initially studied by separate research groups including a team at the Institute of Human Genetics Göttingen. They were all identified as carrying homozygous loss-of-function mutations in CDK10. The researchers then used the online tool GeneMatcher to connect and to establish an international collaboration to report on this new syndrome.

CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays
Windpassinger C, Piard J, Bonnard, C, … Al Kaissi A, Reversade B, Kaldis P.
Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003.