Assistance Publique - Hôpitaux de Paris, GH Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.
Service de Génétique Médicale, CHU Nantes, Nantes, France.
Mov Disord. 2021 Mar;36(3):771-774. doi: 10.1002/mds.28371. Epub 2020 Nov 9.
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.
Exome sequencing was performed on 6 hereditary spastic paraplegia families previously tested on an hereditary spastic paraplegia-specific panel.
We describe here a novel hereditary spastic paraplegia family with 4 affected members carrying a homozygous p.(Tyr114*) stop gain variant in RNF170.
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.
Wagner 等人在 2019 年报道了具有痉挛性截瘫和双等位基因变异的功能特征的 RNF170 基因，这强烈支持了该基因在遗传性痉挛性截瘫中的作用。
对先前在遗传性痉挛性截瘫特异性面板上进行检测的 6 个遗传性痉挛性截瘫家系进行外显子组测序。
我们在此描述了一个新的遗传性痉挛性截瘫家系，该家系有 4 名受累成员，携带 RNF170 中的纯合 p.(Tyr114*) 无义突变。
我们证实 RNF170 中的双等位基因截断变异参与了一种新形式的遗传性痉挛性截瘫。© 2020 国际帕金森病和运动障碍协会。
