A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia

Seong Yong Park, Jin Mo Park, Byeonghyeon Lee, Un Kyung Kim, Jin Sung Park

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1 Scopus citations

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 languageEnglish
Article number145129
JournalGene
Volume765
DOIs
StatePublished - 10 Jan 2021

Keywords

  • Asymptomatic
  • Hereditary spastic paraplegia
  • Novel splicing mutation
  • REEP1
  • Whole-exome sequencing

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