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01-05-2019 | Leukodystrophy | Short Communication

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Authors: Andrea Accogli, Laura Russell, Guillaume Sébire, Jean-Baptiste Rivière, Judith St-Onge, Nassima Addour-Boudrahem, Alexandre Dionne Laporte, Guy A. Rouleau, Christine Saint-Martin, Myriam Srour

Published in: Neurogenetics | Issue 2/2019

Abstract

Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystrophies and pontocerebellar hypoplasias (PCH). To date, loss-of-function variants in AIMP1 have been associated with hypomyelinating leukodystrophy-3 (MIM 260600). Here, we report a novel frameshift AIMP1 homozygous variant (c.160delA,p.Lys54Asnfs) in a child with pontocerebellar hypoplasia and simplified gyral pattern, a phenotype not been previously described with AIMP1 variants, thus expanding the phenotypic spectrum. AIMP1 should be included in diagnostic PCH gene panels.

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Title: Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
Authors: Andrea Accogli
Laura Russell
Guillaume Sébire
Jean-Baptiste Rivière
Judith St-Onge
Nassima Addour-Boudrahem
Alexandre Dionne Laporte
Guy A. Rouleau
Christine Saint-Martin
Myriam Srour
Publication date: 01-05-2019
Publisher: Springer Berlin Heidelberg
Keyword: Leukodystrophy
Published in: Neurogenetics / Issue 2/2019
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-019-00572-7

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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