De novo REEP2 missense mutation in pure hereditary spastic paraplegia.

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.

• Authors: Ricardo H Roda, Alice B Schindler, Craig Blackstone
• Journal: Annals of clinical and translational neurology (Ann Clin Transl Neurol) Vol. 4 Issue 5 Pg. 347-350 (05 2017) ISSN: 2328-9503 [Print] United States
• PMID: 28491902 (Publication Type: Journal Article)