Oculoskeletodental syndrome

Definition:

Oculoskeletodental syndrome is a novel syndromic disorder involving neurological, visual, skeletal, growth, and occasionally hearing impairments. It has been reported that loss-of-function mutations in PIK3C2A cause this syndrome. PIK3C2A is a class II member of the phosphoinositide 3-kinase family of lipid kinases that catalyzes the phosphorylation of phosphatidylinositol.

References:

[1]. Dov Tiosano, et al. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. PLoS Genet. 2019 Apr 29;15(4):e1008088. [Content Brief]

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