Abstract
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.
Original language | English |
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Article number | 145129 |
Journal | Gene |
Volume | 765 |
DOIs | |
State | Published - 10 Jan 2021 |
Keywords
- Asymptomatic
- Hereditary spastic paraplegia
- Novel splicing mutation
- REEP1
- Whole-exome sequencing