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Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

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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.

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Acknowledgements

The authors would like to thank the patient’s family for their cooperation.

Author information

Authors and Affiliations

  1. Departments of Pediatrics, Neurology & Neurosurgery, MUHC-Research Institute, McGill University, 1001 Blvd Décarie, Montreal, H4A 3J1, Canada

    Andrea Accogli, Guillaume Sébire & Myriam Srour

  2. IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy

    Andrea Accogli

  3. DINOGMI-Università degli Studi di Genova, 16126, Genoa, Italy

    Andrea Accogli

  4. Division of Medical Genetics, Department of Medicine, McGill University, Montreal, Canada

    Laura Russell

  5. McGill University Health Center (MUHC) Research Institute, Montreal, Canada

    Jean-Baptiste Rivière, Judith St-Onge, Nassima Addour-Boudrahem & Myriam Srour

  6. Montreal Neurological Institute, McGill University, Montreal, Canada

    Alexandre Dionne Laporte & Guy A. Rouleau

  7. Department of Radiology, Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada

    Christine Saint-Martin

Authors
  1. Andrea Accogli
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  2. Laura Russell
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Correspondence to Myriam Srour.

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Accogli, A., Russell, L., Sébire, G. et al. Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia. Neurogenetics 20, 103–108 (2019). https://doi.org/10.1007/s10048-019-00572-7

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  • DOI: https://doi.org/10.1007/s10048-019-00572-7

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