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

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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.

Original languageEnglish
Pages (from-to)1469-1472
Number of pages4
JournalJournal of Genetics
Volume97
Issue number5
DOIs
Publication statusPublished - Dec 1 2018

Keywords

  • hereditary spastic paraplegias
  • next-generation sequencing
  • ZFYVE26 gene

ASJC Scopus subject areas

  • Genetics

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