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