Relevance to Autism

Single nucleotide polymorphism (SNP) array analysis showed a de novo 280kb deletion on chromosome 16q23.2 involving the CMIP gene in a girl with ASD and developmental delay (Van der Aa et al., 2012). De novo deletions involving the CMIP gene were identified in two additional patients diagnosed with ASD and ADHD and presenting with gastrointestinal issues in Luo et al., 2017.

Molecular Function

This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Association studies has shown a possible association between variation in the CMIP gene and nonword repetition ability in specific language impairment (Newbury et al., 2009), as well as between variation in CMIP and dyslexia/reading disability (Scerri et al., 2011).

External Links

References