The UBR5-related neurodevelopmental syndrome is a rare disorder with only 29 patients from a single study reported. Of these patients, 24 had mutations that were de novo, i.e., these mutations representing defective changes in the UBR5gene sequence had happened for the first time in the patient during gamete development and not inherited from either parent.
Of the remaining five patients, one patient inherited the defective UBR5gene from a heterozygous symptomatic mother and one patient inherited from an unaffected mosaic mother (genetic mosaicism is a condition where an individual possesses different genetic lines in different regions of their body). One individual had inherited two variants, one from each unaffected parent, and two individuals had an unknown inheritance.
De novo mutations arise spontaneously.
Inherited mutations occur when one (or both parents) has mutations that are passed onto the next generation.
For main clinical features, please refer to Caregivers – Clinical Characteristics
