Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Cystinosis, nephropathic

The protein product of the CTNS gene is a lysosomal cystin transporter. If defective a lysosomal storage disorder results that is called cystinosis.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:




Forestier L et al. (1999) Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay.

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Wamelink MM et al. (2008) Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

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Bendavid C et al. (2004) FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.

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Kalatzis V et al. (2004) Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

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Cherqui S et al. (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.

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Rupar CA et al. (2001) A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population.

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Phornphutkul C et al. (2001) The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.

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Anikster Y et al. (2000) Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

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Thoene J et al. (1999) Mutations of CTNS causing intermediate cystinosis.

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Shotelersuk V et al. (1998) CTNS mutations in an American-based population of cystinosis patients.

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Town M et al. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

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Mason S et al. (2003) Mutational spectrum of the CTNS gene in Italy.

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Kalatzis V et al. (2002) Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

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Gahl WA et al. (2002) Cystinosis.

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Touchman JW et al. (2000) The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.

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Attard M et al. (1999) Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

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McGowan-Jordan J et al. (1999) Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.

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Bois E et al. (1976) Infantile cystinosis in France: genetics, incidence, geographic distribution.

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Orphanet article

Orphanet ID 120884 external link

NCBI article

NCBI 1497 external link

OMIM.ORG article

Omim 606272 external link

Wikipedia article

Wikipedia EN (CTNS_(gene)) external link
Update: Aug. 14, 2020
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