Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

J Genet. 2018 Dec;97(5):1469-1472.

Abstract

Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a 'target-gene' approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Carrier Proteins / genetics*
  • Consanguinity
  • Genetic Predisposition to Disease / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Mutation*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Carrier Proteins
  • ZFYVE26 protein, human