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

Mol Genet Metab Rep. 2015 Dec 1:5:15-18. doi: 10.1016/j.ymgmr.2015.09.001.


We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. 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 next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders.

Keywords: Functional genomics; PEX16; ataxia; peroxisomal biogenesis.

Publication types

  • Case Reports