Molecular characteristics

Patients with O2HE syndrome present with compound heterozygous status. In general, they have one mutation inherited from one healthy parent and the other mutation inherited from the other healthy parent. So far, all the mutations detected are loss-of-function mutations. In vivo and in vitro functional studies have been performed, showing attenuated or abolished protein activity. The mutations have been detected using exome sequencing of the patient and the parents (TRIO-WES).