A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
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ABSTRACT:
SUBMITTER: Macintosh J
PROVIDER: S-EPMC10240855 | biostudies-literature | 2023 Jan-Dec
REPOSITORIES: biostudies-literature
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A Recurrent <i>De Novo</i> Variant in <i>EIF2AK2</i> Causes a Hypomyelinating Leukodystrophy.
Macintosh Julia J Thiffault Isabelle I Pastinen Tomi T Sztriha László L Bernard Geneviève G
Child neurology open 20230101
<i>De novo</i> pathogenic variants in <i>EIF2AK2</i> 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 numbe ...[more]
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