A Recurrent <i>De Novo</i> Variant in <i>EIF2AK2</i> Causes a Hypomyelinating Leukodystrophy-Reference-Cited by-同舟云学术

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

Published:2023-01 Issue: Volume:10 Page:2329048X2311766
ISSN:2329-048X
Container-title:Child Neurology Open
language:en
Short-container-title:Child Neurology Open

Author:

Macintosh Julia¹²^ORCID,Thiffault Isabelle³⁴⁵,Pastinen Tomi³⁴⁶,Sztriha László⁷,Bernard Geneviève¹²⁸⁹¹⁰

Affiliation:

1. Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada

2. Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada

3. Genomic Medicine Center, Children’s Mercy Hospital, Kansas City, MO, USA

4. University of Missouri Kansas City School of Medicine, Kansas City, MO, USA

5. Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA

6. Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA

7. Department of Pediatrics Szent-Györgyi Albert Medical Center, University of Szeged, Szeged, Hungary

8. Department Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada

9. Department of Pediatrics, McGill University, Montreal, QC, Canada

10. Department of Human Genetics, McGill University, Montreal, QC, Canada

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.

Funder

Canadian Institutes of Health Research

Publisher

SAGE Publications

Subject

General Economics, Econometrics and Finance

Link

http://journals.sagepub.com/doi/pdf/10.1177/2329048X231176673

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