Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case report

Abstract

Two Iranian patients presented in this study was suffering from cystinosis diagnosed based on their clinical symptoms and laboratory tests. The variations c.257_258delCT and c.323delA in the CTNS gene found in them are frameshifts and truncating mutations that affect product function and result in the signs and symptoms of cystinosis.