De novo REEP2 missense mutation in pure hereditary spastic paraplegia.
Ann Clin Transl Neurol
; 4(5): 347-350, 2017 05.
Article
em En
| MEDLINE
| ID: mdl-28491902
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.
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MEDLINE
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En
Ano de publicação:
2017
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Article