학술논문
Variant recurrence confirms the existence of a FBXO31‐related spastic‐dystonic cerebral palsy syndrome
Document Type
Report
Author
Source
Annals of Clinical and Translational Neurology. March 6, 2021, Vol. 8 Issue 4, p951, 5 p.
Subject
Language
English
Abstract
Introduction Cerebral palsy (CP) represents a major neurodevelopmental disorder (NDD) with an estimated prevalence of 2‐3 per 1000 live births.[sup.1,2] The clinical presentation is heterogeneous and the defining features comprise [...]
: 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.
: 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.