دوره 11، شماره 1 - ( 1404 )
جلد 11 شماره 1 : e23 |
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Ayoubi S, Doosti A, Ahmadi Shadmehri A, Jafarinia M, Forouzanfar M. Identification of New ARSA Gene Variants in a 4-Years-Old Iranian Child with Intellectual Disability; Report a Case and Literature Review. CJP 2025; 11 (1)
URL: http://caspianjp.ir/article-1-262-fa.html
URL: http://caspianjp.ir/article-1-262-fa.html
Identification of New ARSA Gene Variants in a 4-Years-Old Iranian Child with Intellectual Disability; Report a Case and Literature Review. مجله کاسپین کودکان. 1404; 11 (1)
چکیده: (29 مشاهده)
Background and Objective: Intellectual disability (ID) involves persistent cognitive disorders due to brain damage or incomplete development. This study aims to identification of new ARSA gene variants in a 4-years-old Iranian child with intellectual disability using whole exome sequencing.
Case Report: The study was an experimental, laboratory case report at the Islamic Azad University, Marvdasht. Samples from medical centers, including a child with mental retardation, were examined genetically. Clinical evaluation, genealogy, exome sequencing, Sanger sequencing, structural modeling, and in silico analysis were conducted. Minor allele frequencies were reviewed in UCSC and Ensemble databases. Results were cross-checked with the Thousand Genomes Project, comparing findings with Iran's and global populations, excluding known polymorphisms. Data analysis was performed using Excel and IBM SPSS ver. 27 software. For the first time, a rare homozygous pathogenic variant in the ARSA gene (c.1174C>T) was identified in ID patients. The results showed that these mutations are probably responsible for the ID in this patient, because any defect in the protein encoded by the ARSA gene can lead to a disruption of the calcium channel and the lack of binding of magnesium to its receptor and excessive stimulation of neurons.
Conclusion: This study provides useful information for the genetic causes of ID patients. In addition, these findings show that the ARSA gene is related to brain development. Finally, this study not only elucidates the genetic causes of ID, but also the utility of exome sequencing in identifying new variants of genes.
Case Report: The study was an experimental, laboratory case report at the Islamic Azad University, Marvdasht. Samples from medical centers, including a child with mental retardation, were examined genetically. Clinical evaluation, genealogy, exome sequencing, Sanger sequencing, structural modeling, and in silico analysis were conducted. Minor allele frequencies were reviewed in UCSC and Ensemble databases. Results were cross-checked with the Thousand Genomes Project, comparing findings with Iran's and global populations, excluding known polymorphisms. Data analysis was performed using Excel and IBM SPSS ver. 27 software. For the first time, a rare homozygous pathogenic variant in the ARSA gene (c.1174C>T) was identified in ID patients. The results showed that these mutations are probably responsible for the ID in this patient, because any defect in the protein encoded by the ARSA gene can lead to a disruption of the calcium channel and the lack of binding of magnesium to its receptor and excessive stimulation of neurons.
Conclusion: This study provides useful information for the genetic causes of ID patients. In addition, these findings show that the ARSA gene is related to brain development. Finally, this study not only elucidates the genetic causes of ID, but also the utility of exome sequencing in identifying new variants of genes.
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