Mutation analysis of RIMS3 identifies two missense variants that segregate with autism and autism related phenotypes. (A) The pedigree for family AU0247 shows that the p.E177A missense variant is present in a patient with autism (AU0247-03), in a sibling with Not Quite Autism (NQA) (AU0247-04), and in the mother who presents with psychiatric symptoms. Chromatograms indicate the presence of the A/C substitution. The SIFT program predicted the p.E177A substitution to be deleterious. (B) The pedigree for family AU0125 shows that the p.M260V missense variant is present in two siblings with autism (AU0125-03 and AU0125-04) as well as in the father who presents with psychiatric symptoms, including obsessive–compulsive disorder (OCD). Chromatograms indicate the presence of the A/G substitution. The variant is not predicted to affect protein function.
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