Molecular characteristics

Variants in SOX6 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%).

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.