Author/Authors :
Ahmadvand Mohammad نويسنده Department of Hematology and Blood Banking, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran , Bashti Oranous نويسنده Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran , Salehi Chaleshtori Ahmad Reza نويسنده Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran , Noruzinia Mehrdad نويسنده Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
Abstract :
Ataxia-telangiectasia is a rare disorder with neurological manifestations, caused by mutations in ATM gene. This gene produces a serine/threonine protein kinase, an activator of the DNA damage response in the face of DNA DSBs, which phosphorylates downstream substrates, integrating with DNA repair procedure. Most ATM mutations are private mutations and, there are no mutational hotspots in the ATM gene. This study tries to unveil a new mutation in this gene in an 8 years old A-T patient. This mutation led to fundamental alterations in ATM protein structure and representation of AT.
