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RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
Jean-Madeleine de Sainte Agathe1, Sandra Mercier2,3, Jean-Yves Mahé3,4
1Assistance Publique - Hôpitaux de Paris, GH Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Background:
Spastic paraparesis and biallelic variants functionally characterized as deleterious in the RNF170 gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic paraplegia.
Methods:
Exome sequencing was performed on 6 hereditary spastic paraplegia families previously tested on an hereditary spastic paraplegia-specific panel.
Results:
We describe here a novel hereditary spastic paraplegia family with 4 affected members carrying a homozygous p.(Tyr114*) stop gain variant in RNF170.
Conclusions:
We confirm the involvement of biallelic truncating variants in RNF170 in a novel form of hereditary spastic paraplegia. © 2020 International Parkinson and Movement Disorder Society.
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