Repository of Research and Investigative Information

Repository of Research and Investigative Information

دانشگاه علوم پزشکی و خدمات بهداشتی درمانی زنجان

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

(2021) Identification of the Peroxisomal Biogenesis Factor 1 Gene Point Mutation in an Iranian Family with Zellweger Syndrome (ZS). Journal of Advances in Medical and Biomedical Research. pp. 167-175. ISSN 2676-6264

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Official URL: http://zums.ac.ir/journal/article-1-6103-en.html

Abstract

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.

Item Type: Article
Keywords: Peroxisomal biogenesis factor, Point mutation, Whole exome sequencing, Zellweger syndrome
Divisions: vice research > Journal of Advances in Medical and Biomedical Research
Page Range: pp. 167-175
Journal or Publication Title: Journal of Advances in Medical and Biomedical Research
Volume: 29
Number: 134
Publisher: Zanjan University of Medical Sciences
Identification Number: https://doi.org/10.30699/jambs.29.134.167
ISSN: 2676-6264
Depositing User: خانم فرزانه محمودوند
URI: http://repository.zums.ac.ir/id/eprint/8015

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