51. A novel REEP1 splicing mutation with broad clinical variability in a family with hereditary spastic paraplegia
- Author
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Seong-Yong Park, Un-Kyung Kim, Byeonghyeon Lee, Jin-Mo Park, and Jin-Sung Park
- Subjects
Adult ,Male ,0301 basic medicine ,Heterozygote ,Hereditary spastic paraplegia ,RNA Splicing ,Ankle contracture ,Biology ,Asymptomatic ,03 medical and health sciences ,0302 clinical medicine ,Genetics ,medicine ,Humans ,Family ,Exome sequencing ,Spastic Paraplegia, Hereditary ,Membrane Transport Proteins ,General Medicine ,Middle Aged ,medicine.disease ,Phenotype ,Pedigree ,030104 developmental biology ,030220 oncology & carcinogenesis ,Mutation ,Immunology ,Mutation (genetic algorithm) ,Female ,Restriction fragment length polymorphism ,medicine.symptom ,Asymptomatic carrier - 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.
- Published
- 2021