Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

Mol Genet Metab. 2017 Aug;121(4):325-328. doi: 10.1016/j.ymgme.2017.06.004. Epub 2017 Jun 17.


Patients with PEX3 mutations usually present with a severe form of Zellweger spectrum disorder with death in the first year of life. Whole exome sequencing in adult siblings with intellectual disability revealed a homozygous variant in PEX3 that abolishes the normal splice site. A cryptic acceptor splice site is activated and an in-frame transcript with a deletion is produced. This transcript translates into a protein with residual activity explaining the relatively mild peroxisomal abnormalities and clinical phenotype.

Keywords: Cryptic splice site; PEX genes; PEX3; Peroxisomal biogenesis disorder; Zellweger spectrum disorder; Zellweger syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Family
  • Female
  • Homozygote
  • Humans
  • Lipoproteins / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Mutation
  • Peroxins / genetics*
  • Peroxisomes / physiology
  • Phenotype
  • RNA Splice Sites
  • Sequence Deletion
  • Zellweger Syndrome / genetics*
  • Zellweger Syndrome / metabolism*


  • Lipoproteins
  • Membrane Proteins
  • Peroxins
  • Pex3 protein, human
  • RNA Splice Sites