Single nucleotide polymorphism (SNP) array analysis showed a de novo 280â??kb 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. De Wachter et al., 2026 identified a cohort of 25 individuals from 17 unrelated families, including the individuals previously reported in Van der Aa et al., 2012 and Luo et al., 2017, with either a heterozyous loss-of-function variant in the CMIP gene or a complex or partial deletion of CMIP and presenting with a variable phenotype with a high prevalence of developmental deiay (20/25), autism spectrum disorder feaures (13/25), attention-deficit/hyperactivity disorder features (11/25), other psychiatric disorders (15/25), and epilepsy (9/25); assessment of a cmip mutant zebrafish model in the same report showed that these mutants showed temperature-dependent altered locomotor activity and spontaneous epileptiform discharges.
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
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
