A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Carlos A. Bacino, Yu Hsin Chao, Elaine Seto, Tim Lotze, Fan Xia, Richard O. Jones, Ann Moser, Michael F. Wangler

Research output: Contribution to journalArticlepeer-review

Abstract

We present a patient with a unique neurological phenotype with a progressive neurodegenerative. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis disorder (PBD). Interestingly, the patient's peroxisomal biochemical abnormalities were subtle, such that plasma very-long-chain fatty acids initially failed to provide a diagnosis. This case suggests that next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.

Original languageEnglish (US)
Article number130
Pages (from-to)15-18
Number of pages4
JournalMolecular Genetics and Metabolism Reports
Volume5
DOIs
StatePublished - Dec 1 2015

Keywords

  • Ataxia
  • Functional genomics
  • PEX16
  • Peroxisomal biogenesis

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology

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