Negin Parsamanesh - Zanjan Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran
Aazam Ahmadi Shadmehri - Social Welfare Organization of South Khorasan Province, Birjand, Iran
Shahnaz Zarifi - Social Welfare Organization of South Khorasan Province, Birjand, Iran
Ebrahim Miri-Moghaddam - Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, Iran

   Background & Objective:  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 PEX۱ 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.  Materials & Methods:  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.  Results:  The PEX۱ (NC_۰۰۰۰۰۷.۱۴) mutation was detected at location Chr۷q۲۱.۲. This chromosomal location was anticipated as the disorder-causing variant. GGT (Glycine) changes to GAT (Aspartate) in codon ۸۴۳ were confirmed by Sanger sequencing. Examination results of the mentioned family revealed a missense mutation in the PEX۱.  Conclusion:  In conclusion, our study indicated a mutation in the PEX۱ in the affected family. This mutation is a missense variant at codon ۸۴۳ 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.    

Peroxisomal biogenesis factor, Point mutation, Whole exome sequencing, Zellweger syndrome