Homozygous mutations in LMNB2may result in progressive myoclonic epilepsy with myoclonus and seizures, ataxia and intention tremor. Bulbar myoclonus leads to dysrathria. Intellect appears preserved. To date, the three reported mutations in three consanguineous families were missense and inherited with complete penetrance.
Heterozygous mutations in LMNB2may result in severe microcephaly, variable degree of intellectual disability, relative short stature and neurological features including seizures. To date, the two reported mutations in five individuals were missense, including one recurrent in four individuals and occurred de novo, except one family with low grade mosaicism in a clinically unaffected father.
LMNB2