Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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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