De novo REEP2 missense mutation in pure hereditary spastic paraplegia

Ricardo H Roda; Alice B Schindler; Craig Blackstone

doi:10.1002/acn3.404

De novo REEP2 missense mutation in pure hereditary spastic paraplegia

Ann Clin Transl Neurol. 2017 Apr 11;4(5):347-350. doi: 10.1002/acn3.404. eCollection 2017 May.

Authors

Ricardo H Roda^{1

2}, Alice B Schindler², Craig Blackstone²

Affiliations

¹ Neuromuscular Medicine Department of Neurology Johns Hopkins University School of Medicine Baltimore Maryland.
² Neurogenetics Branch National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda Maryland.

Abstract

Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1-78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum-shaping protein are well-known causes of SPG31, a common autosomal dominant spastic paraplegia. A closely-related gene, REEP2, is mutated in SPG72, with both autosomal and recessive inheritances. Here, we report a patient with a pure hereditary spastic paraplegia due to a de novo missense mutation (c.119T > G, p.Met40Arg) in REEP2 at a highly-conserved residue very close to another known pathogenic missense change. This represents only the second autosomal dominant SPG72 missense mutation reported.