Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.


Journal

Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714

Informations de publication

Date de publication:
02 2019
Historique:
pubmed: 30 11 2018
medline: 25 3 2020
entrez: 30 11 2018
Statut: ppublish

Résumé

AIMP1/p43, is a noncatalytic component of the mammalian multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their cognate tRNAs. AIMP1 is largely expressed in the central nervous system, where it is part of the regulatory machine of the neurofilament assembly, playing a crucial role in neuronal development and function. To date, nonsense mutations in AIMP1 have been associated with a primary neurodegenerative disorder consisting of cerebral atrophy, hypomyelination, microcephaly and epilepsy, whereas missense mutations have recently been linked to intellectual disability without neurodegeneration. Here, we report the first French-Canadian patient with a novel frameshift AIMP1 homozygous mutation (c.191_192delAA, p.Gln64Argfs*25), resulting in a severe neurodegenerative phenotype. We review and discuss the phenotypic spectrum associated with AIMP1 pathogenic variants.

Identifiants

pubmed: 30486714
doi: 10.1177/0883073818811223
doi:

Substances chimiques

Cytokines 0
Neoplasm Proteins 0
RNA-Binding Proteins 0
small inducible cytokine subfamily E, member 1 0

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

74-80

Subventions

Organisme : CIHR
Pays : Canada

Auteurs

Andrea Accogli (A)

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
2 UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy.
3 Università degli Studi di Genova, Genoa, Italy.

Kether Guerrero (K)

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
4 Department of Internal Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Canada.
5 Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.

Maria Daniela D'Agostino (MD)

4 Department of Internal Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Canada.
6 Department of Human Genetics, McGill University, Montreal, Canada.

Luan Tran (L)

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
4 Department of Internal Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Canada.
5 Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.

Cécile Cieuta-Walti (C)

7 Service de Neuropédiatre, Université de Sherbrooke, Quebec, Canada.
8 Institut Lejeune, Paris, France.

Isabelle Thiffault (I)

9 Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA.
10 University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.

Sébastien Chénier (S)

11 Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, Canada.

Jeremy Schwartzentruber (J)

6 Department of Human Genetics, McGill University, Montreal, Canada.

Jacek Majewski (J)

6 Department of Human Genetics, McGill University, Montreal, Canada.

Geneviève Bernard (G)

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.
4 Department of Internal Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, Canada.
5 Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada.

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