Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism

► We examined gene mutations contributing to intellectual disability (ID) and autism. ► We mapped the breakpoints to ZNF407 in an ID/autistic patient with a reciprocal translocation between chromosomes 3 and 18. ► This break inhibits ZNF407 expression. ► Two ZNF407 mutants were found among 105 ID/autistic patients. ► Mutations in ZNF407 contribute to ID/autism.