Erschienen in:
28.03.2019 | Short Communication
Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia
verfasst von:
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
Erschienen in:
Neurogenetics
|
Ausgabe 2/2019
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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.