Genetic basis of cystinosis in Turkish patients: a single-center experience
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Rezan Topaloglu & Thierry Vilboux & Turgay Coskun & Fatih Ozaltin & Brad Tinloy & Meral Gunay-Aygun & Aysin Bakkaloglu & Nesrin Besbas & Lambert van
- چاپ و سال / کشور: 2011
Description
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7–29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month to 9 years. Seven patients reached end-stage renal failure at ages ranging from 6.5 to 15 years. Whereas three of the remaining five have renal Fanconi syndrome with proteinuria, two have had kidney failure of varying degrees. Molecular analyses involved an initial multiplex polymerase chain reaction (PCR) to determine the presence or absence of the 57-kb northern European founder deletion in CTNS, followed by sequencing of the ten coding exons of CTNS. Comprehensive mutation analysis verified that none of the 12 patients carried the common 57-kb deletion. We identified four previously reported nucleotide variations associated with cystinosis and five new variants: a 10-kb deletion, three missense variants, and a nucleotide substitution in a potential branch point site of intron 4. This study is the first molecular analysis of Turkish cystinosis patients and provides guidance for the molecular diagnosis of cystinosis in this population.
Pediatr Nephrol DOI 10.1007/s00467-011-1942-6 Received: 17 October 2010 / Revised: 28 April 2011 / Accepted: 1 June 2011
