An enrichment of deletions of the TRPM1 gene were observed in ASD cases (5/2,588) compared to controls (0/2,670; Fisher's exact test p=0.029) (Girirajan et al., 2013).
This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis.
Type of Disorder
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.