A homozygous
Ataxia
/ genetics
CRISPR-Cas Systems
/ genetics
Central Nervous System
/ metabolism
Consanguinity
Epilepsy
/ genetics
Female
Gene Expression Regulation
/ genetics
Genetic Linkage
HEK293 Cells
Homozygote
Humans
Infant
Intellectual Disability
/ genetics
Male
Movement Disorders
/ genetics
Mutation
/ genetics
Nervous System Malformations
/ genetics
Pedigree
Peripheral Nerves
/ metabolism
Proteins
/ genetics
Ubiquitin-Activating Enzymes
/ genetics
UBA5
peripheral nerve disease
rare disease
ufmylation
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
09
08
2019
revised:
19
02
2020
accepted:
22
02
2020
pubmed:
18
3
2020
medline:
6
7
2021
entrez:
18
3
2020
Statut:
ppublish
Résumé
UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with We describe a large multigenerational consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Whole exome sequencing and linkage analysis identified a novel homozygous This report expands the phenotypical spectrum of UBA5 mutations to include fatal peripheral neuropathy.
Sections du résumé
BACKGROUND
UBA5 is the activating enzyme of UFM1 in the ufmylation post-translational modification system. Different neurological phenotypes have been associated with
METHODS AND RESULTS
We describe a large multigenerational consanguineous family presenting with a severe congenital neuropathy causing early death in infancy. Whole exome sequencing and linkage analysis identified a novel homozygous
CONCLUSION
This report expands the phenotypical spectrum of UBA5 mutations to include fatal peripheral neuropathy.
Identifiants
pubmed: 32179706
pii: jmedgenet-2019-106496
doi: 10.1136/jmedgenet-2019-106496
doi:
Substances chimiques
Proteins
0
UBA5 protein, human
0
UFM1 protein, human
0
Ubiquitin-Activating Enzymes
EC 6.2.1.45
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
835-842Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.