Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8

Clin Neurol Neurosurg. 2016 May:144:36-8. doi: 10.1016/j.clineuro.2016.02.031. Epub 2016 Mar 4.

Abstract

Exome sequencing revealed a novel missense mutation (c.2152G>A, p.E713K) in the KIAA0196 gene in a Japanese patient with SPG8. To date, only 10 mutations in the KIAA0196 gene have been reported in the world. We describe the clinical and genetic findings in our patient with SPG8, which is a rare dominant hereditary spastic paraplegia. Notably, our patient showed mild upper limb ataxia, which is a relatively atypical symptom of SPG8. Thus, our patient showed a wide clinical spectrum of SPG8.

Keywords: Hereditary spastic paraplegia; SPG8.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Exome / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Paraplegia / diagnosis*
  • Paraplegia / genetics*
  • Pedigree
  • Proteins / genetics*
  • Spastic Paraplegia, Hereditary / diagnosis*
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Proteins
  • WASHC5 protein, human

Supplementary concepts

  • Spastic Paraplegia Type 8