Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Cystinose-Gen

Das Proteinprodukt des CTNS-Gens kodiert den lysosomalen Cystin-Transporter, der, wenn er gestört is zu einer Speicherkrankheit mit renaler Manifestation, der Cystinose, führt.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Cystinose
CTNS

Referenzen:

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: 26. September 2018