مقالات پذیرفته شده در هشتمین کنگره بین المللی زیست پزشکی
Identification of disorder-causative variant c.139G>A in ADA2 gene in an Iranian family with a patient With vision disorder using WES technique
Identification of disorder-causative variant c.139G>A in ADA2 gene in an Iranian family with a patient With vision disorder using WES technique
Samin Ordoubadi,1,*Omid Asghari Azhiri,2Peyman Pourdavood,3Asiyeh Jebelli,4Saba Baghshomali,5
1. Higher Education Institute of Rabe-Rashid 2. Higher Education Institute of Rabe-Rashid 3. Medical Science of Tabriz University 4. Higher Education Institute of Rab-Rashid, Tabriz 5. Higher Education Institute of Rab-Rashid, Tabriz
Introduction: Heterogeneous and syndromic diseases involve numerous genes and are not easily diagnosable using traditional methods such as PCR, RFLP and ARMS. Next-generation sequencing (NGS) provides a more comprehensive approach for diagnosing such diseases. NGS is a high-throughput DNA sequencing technology that allows for the rapid and efficient sequencing of a large amount of DNA. NGS has revolutionized genomic research and clinical diagnostics due to its ability to generate vast amounts of sequencing data in a short amount of time, providing valuable insights into genetic variations and mutations. NGS has been widely used in various fields, including genomics, personalized medicine, and cancer research. The aim of this study is to diagnose the genetic basis of a syndrome with different symptoms using WES, a subclass of NGS for analyzing all exons. Heterogeneous diseases can be challenging to diagnose and manage due to the involvement of multiple genes and mutations. Similar studies have focused on utilizing NGS technology to analyze genetic data and identify mutations in affected individuals and carriers. It is crucial to alert parents about the risk of passing on the disease to their offspring and to provide early diagnosis and intervention options.
Methods: The proband was a 13 years-old boy with recurrent stroke and vision disorder with consanguinity marriage in parents. The patient's DNA was extracted and then WES was performed to identify the disease-causative variant. To confirm WES-reported variant in the proband, primers were designed for the variant. Then, co-segregation analysis was done in the parents and brother of the proband.
Results: WES results identified variant c.139G>A in ADA2 gene in the prband, who was homozygous for the mutation. The healthy parents of the patient were found to be heterozygous, and the patient's brother was also in homozygous situation. He showed the disorder-related symptoms. The inheritance pattern for disorder was suggested as autosomal recessive.
Conclusion: NGS technology plays a crucial role in the precise diagnosis of heterogeneous diseases, enabling better understanding of genetic factors and more effective management strategies. By utilizing NGS, we can improve the early detection and management of such diseases, ultimately benefiting patients and their families.