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.

Genetests:

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:

Cystinosis
CTNS

References:

1.

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

external link
2.

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.

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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.

external link
7.

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.

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

Gahl WA et al. (2002) Cystinosis.

external link
15.

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.

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

Orphanet article

Orphanet ID 120884 external link
20.

NCBI article

NCBI 1497 external link
21.

OMIM.ORG article

Omim 606272 external link
22.

Wikipedia article

Wikipedia EN (CTNS_(gene)) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits