Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

doi:10.1016/j.ajhg.2018.02.011

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Article

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

American journal of human genetics - 5 Apr 2018

Mendes Marisa I, Gutierrez Salazar Mariana, Guerrero Kether, Thiffault Isabelle, Salomons Gajja S, Gauquelin Laurence, Tran Luan T, Forget Diane, Gauthier Marie-Soleil, Waisfisz Quinten, Smith Desiree E C, Simons Cas, van der Knaap Marjo S, Marquardt Iris, Lemes Aida, Mierzewska Hanna, Weschke Bernhard, Koehler Wolfgang, Coulombe Benoit, Wolf Nicole I, Bernard Geneviève

Abstract excerpt

Hypomyelinating leukodystrophies are genetic disorders characterized by insufficient myelin deposition during development. They are diagnosed on the basis of both clinical and MRI features followed by genetic confirmation. Here, we report on four unrelated affected individuals with hypomyelination and bi-allelic pathogenic variants in EPRS, the gene encoding cytoplasmic glutamyl-prolyl-aminoacyl-tRNA synthetase....

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PMID: 29576217
DOI: 10.1016/j.ajhg.2018.02.011
PMCID: PMC5985283

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