Homozygous variants in the RSRC1 gene are responsible for a form of autosomal recessive intellectual disability [autosomal recessive intellectual developmental disorder-70 (MRT70); OMIM 618402); behavioral abnormalities including ASD or ADHD are frequently observed in affected individuals (Perez et al., 2018; Scala et al., 2020). Cross-trait meta-analysis of genome-wide studies on schizophrenia, bipolar disorder, autism spectrum disorder, ADHD, and depression identified an intronic variant in the RSRC1 gene (rs1589526) that reached genome-wide association with ASD following MTAG analysis (P-value 1.62E-08) (Wu et al., 2020); SNPs in the RSRC1 gene have previously been shown to reach genome-wide significance for association with depression (Wray et al., 2018; Li et al., 2018; Howard et al., 2019).
Molecular Function
This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3
Meta-analysis cohort of 246,363 MDD cases and 561,190 controls (23andMe, PGC, and UKBiobank), followed by an independent replication cohort of 414,055 cases and 892,299 controls (23andMe)
