Journal of Advances in Medical and Biomedical Research

en Identification of the Peroxisomal Biogenesis Factor 1 Gene Point Mutation in an Iranian Family with Zellweger Syndrome (ZS) Medical Biology Medical Biology مقاله پژوهشی Original Research Article    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 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.  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 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.  Conclusion:  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. <div style="text-align: justify;"></div> <div style="text-align: justify;"></div> <div style="direction: ltr;"></div><div style="direction: ltr;"></div><div style="direction: ltr;"></div> <div style="direction: ltr;"> </div> <div style="direction: ltr;"> </div> Peroxisomal biogenesis factor, Point mutation, Whole exome sequencing, Zellweger syndrome 167 175 http://journal.zums.ac.ir/browse.php?a_code=A-10-5527-1&slc_lang=en&sid=1 Negin Parsamanesh neginparsa.684@gmail.com 5200319475328460056497 5200319475328460056497 No Zanjan Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran Aazam Ahmadi Shadmehri ahmadi.aazam@yahoo.com 5200319475328460056498 5200319475328460056498 No Social Welfare Organization of South Khorasan Province, Birjand, Iran Shahnaz Zarifi negin_angel_p@yahoo.com 5200319475328460056499 5200319475328460056499 No Social Welfare Organization of South Khorasan Province, Birjand, Iran Ebrahim Miri-Moghaddam moghaddam4@yahoo.com 5200319475328460056500 5200319475328460056500 Yes Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, Iran