Retinol-Dehydrogenase 12
Das RDH12-Gen kodiert ein Enzym des Retinol-Stoffwechsels. Mutationen verursachen Lebersche kongenitale Amaurose Typ 13 und Retinitis Pigmentosa 53.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Benayoun L et al. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
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2. |
Janecke AR et al. (2004) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
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3. |
Perrault I et al. (2004) Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
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4. |
Thompson DA et al. (2005) Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
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5. |
Fingert JH et al. (2008) Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
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6. |
Haeseleer F et al. (2002) Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.
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7. |
Orphanet article
Orphanet ID 118250
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8. |
NCBI article
NCBI 145226
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9. |
OMIM.ORG article
Omim 608830
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Update: 14. August 2020