ARID2

Molecular characteristics

Mutations in ARID2 are inherited in an autosomal dominant manner. To date almost all cases result from a de novo mutation. Thus, the affected individuals represent sporadic cases, i.e. a single occurrence in a family. The recurrence risk for future pregnancies is considered low (probably <1%). Prenatal testing is technically feasible, but the likelihood of recurrence in families who have had an affected child is considered low based upon the current knowledge.