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

被引：8

作者：

de Sainte Agathe, Jean-Madeleine ^{[1
]}

Mercier, Sandra ^{[2
,3
]}

Mahe, Jean-Yves ^{[3
,4
]}

Pereon, Yann ^{[3
,5
]}

Buratti, Julien ^{[1
]}

Tissier, Laurene ^{[1
]}

Kol, Bophara ^{[1
]}

Said, Samia Ait ^{[1
]}

Leguern, Eric ^{[1
,6
]}

Banneau, Guillaume ^{[1
]}

Stevanin, Giovanni ^{[6
,7
]}

机构：

[1] GH Sorbonne Univ, Dept Genet, Hop Pitie Salpetriere, AP HP, Paris, France

[2] CHU Nantes, Serv Genet Med, Nantes, France

[3] Hop Hotel Dieu, Ctr Reference Malad Neuromusculaires, AOC, Nantes, France

[4] Etab Sante Enfants & Adolescents Reg Nantaise, Nantes, France

[5] CHU Nantes, Lab Explorat Fonct, Nantes, France

[6] Sorbonne Univ, Inst Cerveau, INSERM 1127, CNRS 7225, Paris, France

[7] PSL Res Univ, Ecole Prat Hautes Etud EPHE, Equipe Neurogenet, Paris, France

来源：

MOVEMENT DISORDERS | 2021年 / 36卷 / 03期

基金：

欧盟地平线“2020”;

关键词：

RNF170; hereditary spastic paraplegia; ataxia; biallelic loss of function; GENES;

D O I：

10.1002/mds.28371

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (c) 2020 International Parkinson and Movement Disorder Society

引用

页码：771 / 774

页数：4

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