A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia

Q3 Neuroscience

eNeurologicalSci Pub Date : 2024-06-01 DOI:10.1016/j.ensci.2024.100506

Elvira Sbragia , Andrea Assini , Silvia Calzavara , Paola Carrera , Claudio Marcello Solaro , Emilio Di Maria

引用次数: 0

Abstract

Hereditary spastic paraplegia (HSP) is a group of genetically heterogenous neurodegenerative disorders characterized by progressive spasticity and weakness of lower limbs. We report a novel splicing variant (c.1617-2A>C) of the SPAST gene in a heterozygous carrier from an Italian family with autosomal dominant HSP. The case study describes a pure form of spastic paraparesis with the cardinal clinical features of SPG4. The novel variant affects a canonical splice site and is likely to disrupt RNA splicing. We conclude that the c.1617-2A>C substitution is a null variant, which could be classified as pathogenic; its penetrance should be further investigated.

查看原文本刊更多论文

遗传性痉挛性截瘫杂合子携带者的新型 SPAST 基因剪接变异（c.1617-2A>C）

遗传性痉挛性截瘫（HSP）是一组遗传异质性神经退行性疾病，以进行性痉挛和下肢无力为特征。我们报告了一个意大利常染色体显性遗传性痉挛性截瘫（HSP）家族中 SPAST 基因的一个新型剪接变异体（c.1617-2A>C）。该病例研究描述了一种具有 SPG4 主要临床特征的纯合型痉挛性截瘫。该新型变异影响了一个规范剪接位点，可能会破坏 RNA 剪接。我们的结论是，c.1617-2A>C置换是一种无效变异，可被归类为致病性变异；其渗透性有待进一步研究。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

eNeurologicalSci Neuroscience-Neurology

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

62 days

期刊介绍： eNeurologicalSci provides a medium for the prompt publication of original articles in neurology and neuroscience from around the world. eNS places special emphasis on articles that: 1) provide guidance to clinicians around the world (Best Practices, Global Neurology); 2) report cutting-edge science related to neurology (Basic and Translational Sciences); 3) educate readers about relevant and practical clinical outcomes in neurology (Outcomes Research); and 4) summarize or editorialize the current state of the literature (Reviews, Commentaries, and Editorials). eNS accepts most types of manuscripts for consideration including original research papers, short communications, reviews, book reviews, letters to the Editor, opinions and editorials. Topics considered will be from neurology-related fields that are of interest to practicing physicians around the world. Examples include neuromuscular diseases, demyelination, atrophies, dementia, neoplasms, infections, epilepsies, disturbances of consciousness, stroke and cerebral circulation, growth and development, plasticity and intermediary metabolism. The fields covered may include neuroanatomy, neurochemistry, neuroendocrinology, neuroepidemiology, neurogenetics, neuroimmunology, neuroophthalmology, neuropathology, neuropharmacology, neurophysiology, neuropsychology, neuroradiology, neurosurgery, neurooncology, neurotoxicology, restorative neurology, and tropical neurology.