Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu, Republic of Korea.
Department of Neurology, Dongguk University College of Medicine, Dongguk University Gyeongju Hospital, Gyeongju, Republic of Korea.
Gene. 2021 Jan 10;765:145129. doi: 10.1016/j.gene.2020.145129. Epub 2020 Sep 6.
Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetic disorders characterized by lower-limb spastic paralysis. We report on a family with three generations of autosomal dominant inheritance of HSP caused by a novel heterozygous splice-site mutation (c.303 + 2 T > C) in REEP1 that was confirmed by RFLP analysis. Carriers of the mutation, including one asymptomatic individual, showed a mild HSP phenotype with a wide range of intrafamilial variation. All symptomatic carriers had ankle contractures in addition to other classical clinical symptoms of HSP. Clinicians should suspect REEP1-related HSP in patients who show ankle contractures with other symptoms of HSP and should consider that these patients have asymptomatic carriers within their family.
遗传性痉挛性截瘫（HSP）是一组异质性遗传疾病，其特征为下肢痉挛性瘫痪。我们报告了一个家族三代遗传性 HSP，其致病原因为 REEP1 中一个新的杂合剪接位点突变（c.303+2T>C），经 RFLP 分析证实。该突变的携带者，包括一名无症状个体，表现出轻度 HSP 表型，具有广泛的家族内变异性。所有有症状的携带者除了 HSP 的其他经典临床症状外，还有踝关节挛缩。临床医生应该怀疑 REEP1 相关性 HSP 患者出现踝关节挛缩以及 HSP 的其他症状，并且应该考虑到这些患者的家族中存在无症状携带者。
