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Molecular characteristics

Mutations in ARID1B are inherited in an autosomal dominant manner, but to date almost all cases resulted 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%). One individuals with ARID1B-related intellectual disability have been known to reproduce (Smith et al., 2016).

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.