Genetic Counselling
The Christianson syndrome has an X-linked inheritance pattern.
If the pathogenic variant occurred de novo (new) in the patient (i.e. it was not detected in the parents), the recurrence risk in subsequent pregnancies of the proband’s parents is generally low (<1%). Female members of the same family (e.g. aunties, nieces or female cousins on the mother’s side) may show few or no symptoms even though they may carry a SLC9A6variant. The diagram below shows what can happen when a female who is carrying a SLC9A6variant has children. The genetic ‘carrier’ may pass the variant on to her children, who could then have a SLC9A6-related condition. Prenatal diagnosis is possible, if requested by the parents.
