RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation

Jean‐Madeleine Sainte Agathe, Sandra Mercier, Jean‐Yves Mahé, Yann Péréon, Julien Buratti, Laurène Tissier, Bophara Kol, Samia Ait Said, Éric Leguern, Guillaume Banneau, Giovanni Stévanin
Mov Disord. 2020-11-09; 36(3): 771-774
DOI: 10.1002/MDS.28371

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1. Mov Disord. 2021 Mar;36(3):771-774. doi: 10.1002/mds.28371. Epub 2020 Nov 9.

RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.

de Sainte Agathe JM(1), Mercier S(2)(3), Mahé JY(3)(4), Péréon Y(3)(5), Buratti
J(1), Tissier L(1), Kol B(1), Said SA(1), Leguern É(1)(6), Banneau G(1), Stévanin
G(6)(7).

Author information:
(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.

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.

© 2020 International Parkinson and Movement Disorder Society.

DOI: 10.1002/mds.28371
PMID: 33165979 [Indexed for MEDLINE]

Auteurs Bordeaux Neurocampus