Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Haeseleer F et. al. (2002) Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina.

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3.

Janecke AR et. al. (2004) Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

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4.

Perrault I et. al. (2004) Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

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5.

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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6.

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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Update: Sept. 26, 2018