Tubby-related Protein 1
Das TULP1-Gen kodiert ein Protein, welches an der Funktion der Photorezeptoren beteiligt ist. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 15.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kondo H et al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
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2. |
Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
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3. |
den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
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4. |
Mataftsi A et al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
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5. |
Knowles JA et al. (1994) Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.
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6. |
North MA et al. (1997) Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.
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7. |
Hagstrom SA et al. (1998) Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
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8. |
Banerjee P et al. (1998) TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.
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9. |
Lewis CA et al. (1999) Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
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10. |
Ikeda S et al. (2000) Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene.
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11. |
Paloma E et al. (2000) Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.
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12. |
den Hollander AI et al. (2007) Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
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13. |
Orphanet article
Orphanet ID 120341
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14. |
NCBI article
NCBI 7287
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15. |
OMIM.ORG article
Omim 602280
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Update: 14. August 2020