Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
intellectual disability
leukodystrophy
neurodevelopment
seizures
spasticity
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
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
74-80Subventions
Organisme : CIHR
Pays : Canada