Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Related Diseases:

Cystinosis
CTNS

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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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6.

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

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7.

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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8.

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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9.

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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10.

Gahl WA et al. (2002) Cystinosis.

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11.

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

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12.

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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13.

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

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14.

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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15.

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

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16.

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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17.

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

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18.

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

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Update: Sept. 26, 2018