title: The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.
abstract: OBJECTIVE
  Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the CTNS gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the CTNS gene and its promoter in a number of Iranian patients with NC.
  
  
  METHODS
  Polymerase chain reaction and direct sequencing were performed for molecular characterization of the CTNS gene in 25 patients from 24 unrelated Iranian families with NC.
  
  
  RESULTS
  None of the patients showed the 57 kb deletion in heterozygous or homozygous manner. One was homozygous for a novel mutation, which was termed as "c.153-155insCT", while one of the cases was homozygous and another was compound heterozygous for the second novel mutation c.923G>A. Moreover three known mutations c.18-21delGACT, c.1017G>A, and c.681G>A in 11 of the patients were detected. No apparent mutation was observed in the rest of patients (44%, n=11).
  
  
  CONCLUSIONS
  The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC, at least in the Southwestern Iran, where Arab ethnicity is one of the common ethnicities of the region.
authors: Research Center for Thalassemia and Hemoglobinopathy, Jondishapour University of Medical Sciences, Ahvaz, Iran.
authors: Sepideh
authors: S
authors: Shahkarami
authors: Hamid
authors: H
authors: Galehdari
authors: Ali
authors: A
authors: Ahmadzadeh
authors: Mahnaz
authors: M
authors: Babaahmadi
authors: Mohammad
authors: M
authors: Pedram
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human