The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 4
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey
Neslihan Önenli-Mungan 1 ,Deniz Kör 1 ,Aysun Karabay-Bayazıt 2 ,Nurcan Cengiz 3 ,Sevgi Yavuz 2 ,Aytül Noyan 3 ,Gülay Ceylaner 4 ,Berna Şeker-Yılmaz 1 ,Ali Kemal Topaloğlu 1 ,Bilgin Yüksel 1 ,Ali Anarat 1
1 Divisions of Pediatric Nutrition and Metabolism, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana
2 Pediatric Nephrology, Department of Pediatrics, Çukurova University Faculty of Medicine, Adana
3 Division of Pediatric Nephrology, Department of Pediatrics, Başkent University Faculty of Medicine, Adana,
4 Intergen Genetic Laboratory, Ankara, Turkey
DOI : 10.24953/turkjped.2016.04.003 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. Keywords : CTNS, cystinosin, cystinosis, Fanconi syndrome, mutations

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