JIMD Reports, Volume 34

Maxit, C, Denzler, I, Marchione, D, Agosta, G, Koster, J, Wanders, R J A, Ferdinandusse, S, Waterham, H R, C. Maxit, I. Denzler, D. Marchione, G. Agosta, J. Koster, R. J. A. Wanders, S. Ferdinandusse, H. R. Waterham, Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.

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. We herein report a patient who is currently 9 years old and who is compound heterozygous for two novel mutations in the PEX3 gene. 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. 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.