遗传性痉挛性截瘫31型一家系临床特征和REEP1基因突变分析

Clinical features of hereditary spastic paraplegia type 31 and analysis of REEP1 gene mutation

目的探讨遗传性痉挛性截瘫(HSP)SPG31型的临床特征及REEP1基因突变的致病机制。方法回顾性分析2018年9月华中科技大学同济医学院附属同济医院儿科收治的一家系HSP SPG31型的临床资料和基因检测结果并进行文献复习。结果该HSP家系3代共6例成员携带REEP1基因杂合突变c. 425del(p.Gly142Valfs*81),该变异属未报道的新发强致病变异,患者临床表现轻重不等,主要表现双下肢无力、走路不稳及痉挛步态,先证者呈缓慢进行性加重。结论 HSP具有显著临床和遗传异质性,REEP1基因新的位点突变可能是引起该家系发病的原因,但确切结论尚需进一步验证。

Objective To explore the clinical features of hereditary spastic paraplegia(HSP)SPG 31 and the pathogenic mechanism of REEP1 gene mutation.Methods The clinical data of a HSP family(SPG 31)and their gene sequencing results were retrospectively analyzed and literatures were reviewed.ResultsIn the family,6 members over 3 generations carried a novel heterozygous mutation in the REEP1 gene-c.425 del(p.Gly142 Valfs*81)with strong pathogenicity,which was not reported before,whose clinical symptoms varied in severity,mainly manifested by weakness of lower limbs,walking instability and spasm gait,and the proband presented with a slow progressive aggravation.Conclusion HSP has significant clinical and genetic heterogeneity,and a novel REEP1 gene mutation may be the cause of HSP in this family,but the exact conclusion needs to be further verified.