ArticleTheScientificWorldJournal2015
First report of CTNS mutations in a Chinese family with infantile cystinosis.
Article in TheScientificWorldJournal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.BMC genomic data · 2026Article
- Intermediate cystinosis: a case report of 10-year treatment with cysteamine.BMC nephrology · 2024Article
- Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant.Frontiers in pediatrics · 2022Article
- Cystinosis induced byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- A deletion in the Ctns gene causes renal tubular dysfunction and cystine accumulation in LEA/Tohm rats.Mammalian genome : official journal of the International Mammalian Genome Society · 2019Article
- A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to theFrontiers in pediatrics · 2019Article
- The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.Nature reviews. Nephrology · 2017Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However, in Asia, the CTNS mutation is very rarely reported. For the Chinese population, no literature on CTNS mutation screening for IC is available to date. In this paper, by using the whole exome sequencing and Sanger sequencing, we identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS (IVS6+1, del G) and the other at the acceptor site of exon 8 (IVS8-1, del GT). These data give information for the genetic counseling of the IC that occurred in Chinese population.
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