Al Kaissi syndrome

Definition:

Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals harbor mutations in CDK10. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth.

References:

[1]. Christian Windpassinger, et al. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. Am J Hum Genet. 2017 Sep 7;101(3):391-403. [Content Brief]

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