title: Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.
abstract: BACKGROUND
  Peroxisome biogenesis disorders (PBDs) may have a variable clinical expression, ranging from severe, lethal to mild phenotypes with progressive evolution. PBDs are autosomal recessive disorders caused by mutations in PEX genes, which encode proteins called peroxins, involved in the assembly of the peroxisome. Patient Description: We herein report a patient who is currently 9 years old and who is compound heterozygous for two novel mutations in the PEX3 gene.
  
  
  RESULTS
  Mild biochemical abnormalities of the peroxisomal parameters suggested a Zellweger spectrum defect in the patient. Sequence analysis of the PEX3 gene identified two novel heterozygous, pathogenic mutations.
  
  
  CONCLUSIONS
  Mutations in PEX3 usually result in a severe, early lethal phenotype. We report a patient compound heterozygous for two novel mutations in the PEX3 gene, who is less affected than previously reported patients with a defect in the PEX3 gene. Our findings indicate that PEX3 defects may cause a disease spectrum similar as previously observed for other PEX gene defects.
authors.affiliation: Department of Child Neurology, Hospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina.
authors.forename: C
authors.initials: C
authors.lastname: Maxit
authors.affiliation: Department of Child Neurology, Hospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina. ines.denzler@hospitalitaliano.org.ar.
authors.forename: I
authors.initials: I
authors.lastname: Denzler
authors.affiliation: Department of Child Neurology, Hospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina.
authors.forename: D
authors.initials: D
authors.lastname: Marchione
authors.affiliation: Department of Child Neurology, Hospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina.
authors.forename: G
authors.initials: G
authors.lastname: Agosta
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Koster
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: R J A
authors.initials: RJA
authors.lastname: Wanders
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: S
authors.initials: S
authors.lastname: Ferdinandusse
authors.affiliation: Laboratory Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: H R
authors.initials: HR
authors.lastname: Waterham
keywords: PEX3; Peroxisomal disorders; Zellweger spectrum disorders