The KCNB2-related neurodevelopmental syndrome is rare brain disorder with only 7 patients from a single study reported. Of these patients, five had mutations that were de novo, i.e., these mutations representing defective change in the KCNB2 gene sequence had happened for the first time in the patient during embryonic development and not inherited from either parent. Of the remaining two patients, one patient inherited the defective KCNB2 gene from a symptomatic heterozygous father and while the other inherited from an unaffected mosaic father (genetic mosaicism is a condition where an individual possess different genetic lines in different regions of their body).
De novo mutations arise spontaneously. Inherited mutations occur when one (or both parents) have mutations that are passedonto the next generation.
For main clinical features, please refer to Caregivers – Clinical Characteristics