A Recurrent Variant in Causes a Hypomyelinating Leukodystrophy.

pathogenic variants in have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD), including nystagmus, hypotonia, and global developmental delay, and which later progressed to include ataxia and spasticity. Brain MRI at the age of two revealed diffuse hypomyelination. This report adds to the limited number of individuals published and further reinforces variants in as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.