Analysis of de novo variants identified in patients from the Deciphering Developmental Disorders (DDD) Study cohort, along with meta-analysis of probands from previously published studies, identified CNKSR2 as a gene exceeding genome-wide significance (P<7.0E-07) (Deciphering Developmental Disorders Study, 2017). Of the five cases with de novo loss-of-function variants in the CNKSR2 gene from the DDD cohort, two (DECIPHER IDs 260220 and 266616) were reported to have the Human Phenotype Ontology (HPO) term "Autism spectrum disorder".
Molecular Function
This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Prevalence and architecture of de novo mutations in developmental disorders
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants
