A de novo missense variant in the DUSP15 gene that was predicted to be damaging was identified in an ASD proband in Neale et al., 2012; a second de novo missense variant in this gene that was predicted to be disease causing by MutationTaster was identified in an ASD proband of Chinese Han descent in Tian et al., 2016. An assocation study consisting of 255 children with ASD and 427 ethnically-matched healthy controls in Tian et al., 2016 also identified association of the DUSP15 intronic SNP rs37466599 with autism under allelic (P=0.0018), additive (P=0.001), and dominant (P=0.007) models.
Molecular Function
The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of oligodendrocytes differentiation regulator gene DUSP15 with autism.
255 ASD children (233 male, 20 female; age range 2-16 years, mean age 6 years 2 months) and 427 healthy controls (229 male, 198 female); all subjects of Han Chinese descent and recruited in the Institute of Mental Health, Peking University and Peking University Sixth Hospital, China.
