EP181: Expanding the phenotype of LMNB1 duplication: Three generation family with microcephalic infant, asymptomatic individual, and eldest member without leukodystrophy

Abstract

LMNB1 (OMIM# 150340), encodes lamin B1, a component of the nuclear lamina that assembles into a network during mitosis. Duplications that include the LMNB1 gene have been reported to cause an autosomal dominant adult-onset leukodystrophy. This disease encompasses progressive neurologic symptoms including autonomic dysfunction (bladder and bowel dysfunction, impaired thermoregulation, etc.), pyramidal signs (hypertonia, clonus, and spastic weakness), cerebellar signs (ataxia, tremors, and dysmetria), and occasionally late-onset dementia and psychiatric issues.