Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Renaler Natrium-Phosphat-Kotransporter NaPi-IIa

Das SLC34A1-Gen kodiert einen Natrium-Phosphat-Cotransporter in der Niere. Mutationen führen zur autosomal dominanten Hypophosphatämie mit Nephrolithiasis und Osteoporose 1 oder zum autosomal rezessiven renotubulären Fanconi-Syndrom Typ 2

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
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:

Fanconi-Syndrom Typ 2
SLC34A1
Hypophosphatämie mit Nephrolithiasis und Osteoporose Typ 1
SLC34A1

Referenzen:

1.

Prié D et al. (2002) Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.

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2.

Magen D et al. (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

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3.

Tieder M et al. (1988) Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome.

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4.

Ghishan FK et al. (1994) Chromosomal localization of the human renal sodium phosphate transporter to chromosome 5: implications for X-linked hypophosphatemia.

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5.

Tenenhouse HS et al. (1994) Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization.

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6.

Kos CH et al. (1994) Localization of a renal sodium-phosphate cotransporter gene to human chromosome 5q35.

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7.

Magagnin S et al. (1993) Expression cloning of human and rat renal cortex Na/Pi cotransport.

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8.

Hartmann CM et al. (1996) Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2).

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9.

Kos CH et al. (1996) Comparative mapping of Na+-phosphate cotransporter genes, NPT1 and NPT2, in human and rabbit.

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10.

McPherson JD et al. (1997) High resolution mapping of the renal sodium-phosphate cotransporter gene (NPT2) confirms its localization to human chromosome 5q35.

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11.

Zhang XX et al. (1997) Assignment of renal-specific Na(+)-phosphate cotransporter gene Slc17a2 to mouse chromosome band 13B by in situ hybridization.

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12.

Beck L et al. (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.

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