The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia.
Parisa AmirifarMohammad Reza RanjouriSalar PashangzadehMartin LavinReza YazdaniTannaz Moeini ShadMahya MehrmohamadiFereshte SalamiSamaneh DelavariSoraya MoamerAsghar AghamohammadiSeyed Mohammad AkramiHassan AbolhassaniPublished in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2021)
Molecular analysis provides the opportunity for accurate diagnosis and timely management in A-T patients with chronic progressive disease, especially infections and the risk of malignancies. This study characterizes for the first time the broad spectrum of mutations and phenotypes in Iranian A-T patients, which is required for carrier detection and reducing the burden of disease in the future using the patients' families and for the public healthcare system.