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Article

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

Gene - 10 Jan 2021

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

Abstract excerpt

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...

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Family
Heterozygote
Membrane Transport Proteins
Mutation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spastic Paraplegia, Hereditary

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PMID: 32905827
DOI: 10.1016/j.gene.2020.145129

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