Open AccessDe novo REEP2 missense mutation in pure hereditary spastic paraplegia
Author(s) -
Roda Ricardo H.,
Schindler Alice B.,
Blackstone Craig
Publication year - 2017
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.404
Subject(s) - missense mutation , hereditary spastic paraplegia , spastic , mutation , medicine , endoplasmic reticulum , genetics , gene , paraplegia , phenotype , biology , spinal cord , cerebral palsy , psychiatry
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.