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Introduction: Hereditary spastic paraplegia is a rare disease with different inheritance patterns. The prevalence of this disease is about 1.8 per 100 thousand people. Most of the affected patients are the result of consanguineous marriages. Weakness and muscle spasm is the main manifestation of this disease. The purpose of this study was to investigate the mutation analysis of a person with hereditary spastic paraplegia by the whole exome sequencing method.
Methods: Peripheral blood samples were obtained from a person suffering from gait disorder and lower limb spasm with autosomal recessive inheritance pattern. DNA extraction and whole exome sequencing was performed. After analyzing the data related to the whole exome sequence, the disease-causing mutation in the affected person was confirm using Sanger sequencing method. Also, parents were investigated to separate mutation and carrier status. This study was approved by Arak University of Medical Sciences (code IR.ARAKMU.REC.1401.039). Ethical principles have been followed in accordance with the guidelines of the National Ethics Committee and COPE regulations.
Results: In the present study, a homozygous pathogenic mutation (NM_030954.4): c.304T>C (p.Cys102Arg) in the RNF170 gene was identified in the patient, therefor, hereditary spastic paraplegia type 85 was confirmed in him. Also, the parents of the affected person were heterozygous for the mutation.
Conclusions: Homozygous mutation in RNF170 gene was detected using whole exome sequencing method. A mutation in this gene causes hereditary spastic paraplegia. Considering the consanguineous marriage of carrier parents, this finding can be used for preventive measures in future children.

Keywords: Mutation, Hereditary Spastic Paraplegia, Whole Exome Sequencing

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