A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

Creator(s)

Julia Macintosh
Isabelle Thiffault, Children's Mercy HospitalFollow
Tomi Pastinen, Children's Mercy HospitalFollow
László Sztriha
Geneviève Bernard

Document Type

Article

Publication Date

5-29-2023

Identifier

DOI: 10.1177/2329048X231176673; PMCID: PMC10240855

Abstract

De novo pathogenic variants in EIF2AK2 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 de novo variants in EIF2AK2 as a molecular cause of a leukodystrophy that clinically and radiologically resembles PMD.

Journal Title

Child Neurol Open

Volume

10

First Page

2329048

Last Page

2329048

Keywords

EIF2AK2; exome sequencing; hypomyelination; leukodystrophy.

Comments

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed.

Publisher's Link: https://doi.org/10.1177/2329048x231176673

Recommended Citation

Macintosh J, Thiffault I, Pastinen T, Sztriha L, Bernard G. A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy. Child Neurol Open. 2023;10:2329048X231176673. Published 2023 May 29. doi:10.1177/2329048X231176673