Identification of the Peroxisomal Biogenesis Factor 1 Gene Point Mutation in an Iranian Family with Zellweger Syndrome (ZS)

 Peroxisome biogenesis disorders (PBDs) are a group of diseases with peroxisomal dysfunction. Wide range of symptoms are associated with the disease which are due to mutations in the PEX genes. The PEX1 mutation occurs in Zellweger syndrome (ZS), a severe autosomal recessive condition with hypotonia, intellectual disability, and hepatic enlargement. The present study determined the molecular aspects of ZS in a family in South Khorasan Province, Iran.

 Whole-exome sequencing (WES) was performed, clinical history was taken, and the family pedigree was drawn. Subsequently, Sanger sequencing was performed for unique primers. Afterwards, in terms of ZS phenotype, in silico studies were done to examine the changes that occurred in the protein structure.

 The PEX1 (NC_000007.14) mutation was detected at location Chr7q21.2. This chromosomal location was anticipated as the disorder-causing variant. GGT (Glycine) changes to GAT (Aspartate) in codon 843 were confirmed by Sanger sequencing. Examination results of the mentioned family revealed a missense mutation in the PEX1.

 In conclusion, our study indicated a mutation in the PEX1 in the affected family. This mutation is a missense variant at codon 843 in ZS patients. It has an autosomal recessive inheritance pattern. This mutation may be widespread among Iranian population with ZS and can be used for a more desirable personalized medicine.