Document Type : Original Research Article

Authors

• 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

Abstract

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.

Keywords

• ATM gene
• whole exome sequencing
• missense variant
• cerebral ataxia

Main Subjects

• Biological sciences