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Retinol dehydrogenase 12

The RDH12 encodes an enzyme involved in retinol metabolism. Mutations cause autosomal recessive Leber congenital amaurosis type 13 and retinitis pigmentosa 53.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 13
RDH12

References:

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 external link
8.

NCBI article

NCBI 145226 external link
9.

OMIM.ORG article

Omim 608830 external link
10.

Wikipedia article

Wikipedia EN (RDH12) external link
Update: Aug. 14, 2020
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