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

共 50 条

[21] Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia
Halevy, Ayelet
Lerer, Israela
Cohen, Rony
Kornreich, Liora
Shuper, Avinoam
Gamliel, Moria
Zimerman, Bat-El
Korabi, Isam
Meiner, Vardiella
Straussberg, Rachel
Lossos, Alexander
JOURNAL OF NEUROLOGY, 2014, 261 (11) : 2165 - 2169
[22] Association between Hereditary Spastic Paraplegia and a Novel SPAST Exon 11 Mutation
Nie, Wensha
Wang, Huiping
Zhang, Tiesong
Huang, Rongwei
Zhang, Ou
Zhang, Xia
Wang, Zuohua
Wang, Chunxia
Yan, Gong
Zhan, Xuan
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS, 2024, 38 (02): : 1755 - 1759
[23] A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia
J. Hansen
K. Svenstrup
D. Ang
M. N. Nielsen
J. H. Christensen
N. Gregersen
J. E. Nielsen
C. Georgopoulos
P. Bross
Journal of Neurology, 2007, 254 : 897 - 900
[24] Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
Xing, Fu
Du, Juan
NEUROLOGICAL SCIENCES, 2022, 43 (08) : 4989 - 4996
[25] Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
Fu Xing
Juan Du
Neurological Sciences, 2022, 43 : 4989 - 4996
[26] Spastin gene mutation in Japanese with hereditary spastic paraplegia
Yabe, I.
Sasaki, H.
Tashiro, K.
Matsuura, T.
Takegami, T.
Satoh, T.
JOURNAL OF MEDICAL GENETICS, 2002, 39 (08) : e46
[27] Hereditary spastic paraplegia caused by a mutation in the VCP gene
de Bot, Susanne T.
Schelhaas, Helenius J.
Kamsteeg, Erik-Jan
van de Warrenburg, Bart P. C.
BRAIN, 2012, 135
[28] Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia
Woehrer, Adelheid
Laszlo, Lajos
Finsterer, Josef
Stoellberger, Claudia
Furtner, Julia
Rinner, Walter
Molnar, Kinga
Budka, Herbert
Kovacs, Gabor G.
ACTA NEUROPATHOLOGICA, 2012, 124 (04) : 583 - 591
[29] Novel crystalloid oligodendrogliopathy in hereditary spastic paraplegia
Adelheid Woehrer
Lajos Laszlo
Josef Finsterer
Claudia Stöllberger
Julia Furtner
Walter Rinner
Kinga Molnar
Herbert Budka
Gabor G. Kovacs
Acta Neuropathologica, 2012, 124 : 583 - 591
[30] SPG4-related hereditary spastic paraplegia: frequency and mutation spectrum in Brazil
Franca, M. C., Jr.
Dogini, D. B.
D'Abreu, A.
Teive, H. A. G.
Munhoz, R. P.
Raskin, S.
Moro, A.
Melo, C. C.
Gomes, A. P.
Saute, J. A. M.
Jardim, L. B.
Lopes-Cendes, I.
CLINICAL GENETICS, 2014, 86 (02) : 194 - 196

← 1 2 3 4 5 →