KIF4A plays an important role in overall cell mechanisms, especially in cell division. A mutation can impair this role and can therefore have diverse clinical consequences. The mutation (a causal variant) can be identified via molecular genetic testing either by directly examining KIF4A or via panel-, exome- or genome sequencing. Most patients diagnosed so far have so-called missense variants, and sometimes it is not evident to determine whether this variant is causal or not.
KIF4A