A Missense Mutation in CD38 Associated with Autism Spectrum Disorder in Three Pedigrees

Abstract

Autism spectrum disorder (ASD) or pervasive developmental disorder (PDD) is a neurodevelopmental disease, beginning in childhood but extending through to adulthood. ASD is characterised by impairments in reciprocal social interaction and communication, and by restricted or stereotyped patterns of interests and activities. This disorder has received much scientific and social attention1,2. ASD is more common than previously supposed with a frequency of 0.6-3 out of 100 births2-6 and occurs either sporadically or in a familial pattern, and far more commonly in males7-9. The etiology remains largely unknown10. Previously we demonstrated that CD38 acts as a ‘niceness’ protein for mouse social behavior, by regulating release of oxytocin (OT)11, which seems to be essential for mutual recognition and trust12,13. Therefore, here, we describe our results on single nucleotide polymorphisms (SNPs) of CD38 in ASD patients and control subjects14. In addition, we report our experience of treatment of one ASD patient with a CD38 SNP by nasal OT administration.