Biallelic variants in the RIMS2 gene were identified in seven individuals from four unrelated families presenting with syndromic congenital cone-rod synaptic disorder; five of these individuals presented with autistic behavior (Mechaussier et al., 2020). An intronic polymorphism in RIMS2 (rs2080610) had previously been shown to associate with Asperger syndrome in discovery and validation cohorts in Salyakina et al., 2010, while rare CNVs affecting RIMS2 had been identified in two Chinese ASD probands in Fan et al., 2018.
Molecular Function
The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Discovery cohort: 392 individuals from 124 ASD families (University of South Carolina and the John P. Hussman Institute for Human Genomics (HIHG)). Validation cohort: 468 individuals from 110 ASD families (AGRE)
