Jean-Madeleine de Sainte Agathe1, Sandra Mercier2,3, Jean-Yves Mahé3,4, Yann Péréon3,5, Julien Buratti1, Laurène Tissier1, Bophara Kol1, Samia Ait Said1, Éric Leguern1,6, Guillaume Banneau1, Giovanni Stévanin6,7. 1. Assistance Publique - Hôpitaux de Paris, GH Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France. 2. Service de Génétique Médicale, CHU Nantes, Nantes, France. 3. Centre de Référence des Maladies Neuromusculaires, AOC, Hôtel-Dieu, Nantes, France. 4. Établissement de Santé pour Enfants et Adolescents de la région Nantaise, Nantes, France. 5. Laboratoire d'Explorations Fonctionnelles, CHU de Nantes, Nantes, France. 6. Institut du Cerveau, Sorbonne Université (INSERM 1127, CNRS 7225), Paris, France. 7. Équipe de Neurogénétique, École Pratique des Hautes Etudes (EPHE), PSL Research University, Paris, France.
Abstract
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.
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.
Authors: Sien H Van Daele; Matthieu Moisse; Valérie Race; Amélie Van Eesbeeck; Liesbeth Keldermans; Sascha Vermeer; Hilde Van Esch; Kristl G Claeys; Philip Van Damme Journal: Eur J Neurol Date: 2021-09-17 Impact factor: 6.288