title: Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
abstract: We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and followed up after being diagnosed with cystinosis. Nine patients were identified with mutations of homozygous c.451A > G, 7 patients with homozygous c.681G > A, 6 patients with homozygous c.834_842del, 2 patients with homozygous c.18_21delGACT and 1 patient with compound heterozygous for c.451A > G/ c.1015G > A. The c.834_842del mutation identified in six patients from four families has not been previously identified. Progression to renal failure occurred earlier in the patients identified with the new mutation, despite treatment. Larger patient series are required to demonstrate the genotypic properties of the patients with cystinosis and their relationship with the clinical course.
authors.affiliation: Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Önenli-Mungan
authors.affiliation: Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Deniz
authors.initials: D
authors.lastname: Kör
authors.affiliation: Pediatric Nephrology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Aysun
authors.initials: A
authors.lastname: Karabay-Bayazıt
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, Başkent University Faculty of Medicine, Adana.
authors.forename: Nurcan
authors.initials: N
authors.lastname: Cengiz
authors.affiliation: Pediatric Nephrology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Sevgi
authors.initials: S
authors.lastname: Yavuz
authors.affiliation: Division of Pediatric Nephrology, Department of Pediatrics, Başkent University Faculty of Medicine, Adana.
authors.forename: Aytül
authors.initials: A
authors.lastname: Noyan
authors.affiliation: Intergen Genetic Laboratory, Ankara, Turkey.
authors.forename: Gülay
authors.initials: G
authors.lastname: Ceylaner
authors.affiliation: Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Berna
authors.initials: B
authors.lastname: Şeker-Yılmaz
authors.affiliation: Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Ali Kemal
authors.initials: AK
authors.lastname: Topaloğlu
authors.affiliation: Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Bilgin
authors.initials: B
authors.lastname: Yüksel
authors.affiliation: Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana.
authors.forename: Ali
authors.initials: A
authors.lastname: Anarat
mesh_terms: D000293:Adolescent; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D014421:Turkey; D055815:Young Adult
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human
keywords: CTNS; Fanconi syndrome; cystinosin; cystinosis; mutations