Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
20
02
2021
received:
26
01
2021
accepted:
22
02
2021
pubmed:
7
3
2021
medline:
12
1
2022
entrez:
6
3
2021
Statut:
ppublish
Résumé
The role of genetics in the causation of cerebral palsy has become the focus of many studies aiming to unravel the heterogeneous etiology behind this frequent neurodevelopmental disorder. A recent paper reported two unrelated children with a clinical diagnosis of cerebral palsy, who carried the same de novo c.1000G > A (p.Asp334Asn) variant in FBXO31, encoding a widely studied tumor suppressor not previously implicated in monogenic disease. We now identified a third individual with the recurrent FBXO31 de novo missense variant, featuring a spastic-dystonic phenotype. Our data confirm a link between variant FBXO31 and an autosomal dominant neurodevelopmental disorder characterized by prominent motor dysfunction.
Identifiants
pubmed: 33675180
doi: 10.1002/acn3.51335
pmc: PMC8045898
doi:
Substances chimiques
F-Box Proteins
0
FBXO31 protein, human
0
Tumor Suppressor Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
951-955Subventions
Organisme : NHLBI NIH HHS
ID : R00 HL143036
Pays : United States
Informations de copyright
© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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