CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

Loss-of-function variants and deletions of CMIP; multicentre cohort establishing causality beyond isolated cases

CMIP (c-maf inducing protein) is involved in cytoskeletal remodelling, neuronal migration and synapse formation; it had only been linked to neurodevelopmental disorders through isolated cases since 2012. This multicentre study identifies 25 individuals from 17 families with CMIP-related disorders, 22 previously unreported: seven carry loss-of-function variants, eighteen a complete or partial deletion. The phenotype is variable, with developmental delay (20/25), autistic features (13/25), ADHD (11/25), psychiatric disorders (15/25) and epilepsy (9/25). Functional experiments support pathogenicity.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Finally establishes a robust causal relationship between CMIP and neurodevelopmental disorders, beyond the isolated cases accumulated since 2012. CMIP is already captured by WES/WGS; the priority is its reliable interpretation in neurodevelopmental presentations with a strong neuropsychiatric component.

Analysis by Dr Thibaut Benquey