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Genetic basis of cystinosis in Turkish patients: a single-center experience

Rezan Topaloglu1, Thierry Vilboux, Turgay Coskun

  • 1Dept of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara 06100, Turkey. rezantopaloglu@hacettepe.edu.tr

Pediatric Nephrology (Berlin, Germany)
|July 26, 2011
PubMed

Insights

Molecular analysis of the CTNS gene in 12 Turkish cystinosis patients revealed no common founder deletion. Researchers identified new variants, aiding cystinosis diagnosis in this population.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatric Nephrology

Background:

  • Cystinosis is a rare genetic disorder characterized by lysosomal accumulation of cystine.
  • Clinical manifestations include failure to thrive, polyuria, polydipsia, and progressive renal damage.
  • The CTNS gene encodes the cystinosin lysosomal transporter, crucial for cystine efflux.

Purpose of the Study:

  • To conduct the first molecular analysis of the CTNS gene in Turkish cystinosis patients.
  • To identify genetic variations associated with cystinosis in this specific population.
  • To guide molecular diagnostics for cystinosis in Turkish individuals.

Main Methods:

  • Multiplex polymerase chain reaction (PCR) to detect the common 57-kb founder deletion.
  • Sequencing of the ten coding exons of the CTNS gene.
  • Comprehensive mutation analysis of all 12 patients.

Main Results:

  • None of the 12 Turkish patients carried the common 57-kb northern European founder deletion.
  • Four previously reported nucleotide variations in CTNS were identified.
  • Five new variants were discovered, including a 10-kb deletion, three missense variants, and a splice site mutation.

Conclusions:

  • The common 57-kb deletion is not prevalent in Turkish cystinosis patients.
  • Novel CTNS gene variants contribute to cystinosis in this population.
  • This study establishes a foundation for molecular diagnosis of cystinosis in Turkey.

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