Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia

Intern Med. 2013;52(14):1629-33. doi: 10.2169/internalmedicine.52.0252. Epub 2013 Jul 15.

Abstract

Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. We herein describe a Japanese patient with a slowly progressive form of ataxia and spastic paraplegia. Using whole exome sequencing, we identified a novel homozygous frameshift mutation in SPG7, encoding paraplegin, in this patient. This is the first report of an SPG7 mutation in the Japanese population. For disorders previously undetected in a particular population, or unrecognized/atypical phenotypes, exome sequencing may facilitate molecular diagnosis.

Publication types

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

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Asian People / genetics*
  • Exome / genetics
  • Homozygote
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Metalloendopeptidases / genetics*
  • Middle Aged
  • Muscle Spasticity / diagnosis
  • Muscle Spasticity / genetics*
  • Mutation / genetics*
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Paraplegia / diagnosis
  • Paraplegia / genetics*
  • Pedigree
  • Sequence Analysis, DNA / methods
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*
  • Spinocerebellar Ataxias / diagnosis
  • Spinocerebellar Ataxias / genetics*

Substances

  • Metalloendopeptidases
  • SPG7 protein, human
  • ATPases Associated with Diverse Cellular Activities

Supplementary concepts

  • Spastic Ataxia