Original articleMolecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosisAnálisis molecular del gen CTNS en familias jordanas afectadas por cistinosis nefropática

Objective Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis.