ArticlePediatric nephrology (Berlin, Germany)2012
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 57 citations in OpenAlex.
- Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.BMC genomic data · 2026Article
- CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.Advanced biomedical research · 2024Article
- The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience.Cureus · 2024Article
- A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland.Orphanet journal of rare diseases · 2023Article
- Metabolomic Analyses to Identify Candidate Biomarkers of Cystinosis.International journal of molecular sciences · 2023Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Cystinosis and two rare mutations in CTNS gene: two case reports.Journal of medical case reports · 2022Article
- More than tubular dysfunction: cystinosis and kidney outcomes.Journal of nephrology · 2022Article
- Review
- Genetic Landscape of Nephropathic Cystinosis in Russian Children.Frontiers in genetics · 2022Article
- Nephropathic cystinosis: an update on genetic conditioning.Pediatric nephrology (Berlin, Germany) · 2021Review
- Cystinosis beyond kidneys: gastrointestinal system and muscle involvement.BMC gastroenterology · 2020Article
- Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.European journal of human genetics : EJHG · 2020Article
- A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to theFrontiers in pediatrics · 2019Article
- Atypical onset of nephropathic infantile cystinosis in a Russian patient with rareClinical case reports · 2018Article
- Slow progression of renal failure in a child with infantile cystinosis.CEN case reports · 2018Article
- Cysteamine hydrochloride eye drop solution for the treatment of corneal cystine crystal deposits in patients with cystinosis: an evidence-based review.Clinical ophthalmology (Auckland, N.Z.) · 2018Review
- Infantile Nephropathic Cystinosis: A NovelThe Eurasian journal of medicine · 2017Article
- Mutation analysis of theHuman genome variation · 2017Article
- Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene.Meta gene · 2015Article
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.