Document Type : Original Research Article
- Saeed Dorgaleleh 1
- Karim Naghipoor 1
- Teymoor Khosravi 1
- Amin Tadayoni Nia 1
- Elham Sheikhi Ghayur 2
- Hamayon abdul Aziz 3
- Morteza Oladnabi 4
1 Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran
2 Zahedan University of Medical Sciences, Zahedan, Iran
3 Hospital of Dalian Medical University, Orthopedic Department, Dalian, China.
4 Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran
Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in DNA repair systems. Whole exome sequencing was performed on a nine year old male subject with clinical features of A-T. Alpha fetoprotein and immunoglobulins levels in the serum sample were also measured by biochemical testing. Sequencing test revealed c.7456C>T (p.Arg2486X) mutation in exon 50 of ATM gene in this patient. This mutation was previously described as a missense pathogenic variant that could lead to truncation or lack of protein.