We describe 25 children and adults with neurodevelopmental disorders linked to changes in the CMIPgene. In six individuals (28%), the condition was caused by small DNA changes in CMIPthat disrupt the protein (so-called single nucleotide variants). In the remaining 18 individuals (72%), the CMIPgene was missing either completely or partially due to larger genetic deletions that also affected nearby genes. No other clear disease-causing genetic changes were found in these individuals, and the additional genes that were deleted alongside CMIPdo not have strong evidence of causing disease on their own.
Based on these findings, we recommend that CMIP should be included in genetic testing for people with developmental delay, whether or not they also have autism, psychiatric features, or epilepsy.
CMIP