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Comparative Study
. 2004 Oct;75(4):639-46.
doi: 10.1086/424889. Epub 2004 Aug 20.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Isabelle Perrault  1 , Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique Ducroq, Helene Dollfus, Christian Hamel, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, Jean-Michel Rozet
Affiliations
Comparative Study

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Isabelle Perrault et al. Am J Hum Genet. 2004 Oct.

Abstract

Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are involved in the visual cycle, we regarded the retinal pigment epithelium and photoreceptor-specific retinal dehydrogenase (RDH) genes as candidate genes in LCA. Studying a series of 110 unrelated patients with LCA, we found mutations in the photoreceptor-specific RDH12 gene in a significant subset of patients (4.1%). Interestingly, all patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia.

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Figures

Figure 1
Figure 1
Pedigrees and segregation analysis of RDH12 disease-causing mutations in eight families with LCA
Figure 2
Figure 2
Amino acid sequences of human and mouse RDH12 and of human RDH8, RDH10, RDH11, RDH13, and RDH14, deduced from cDNA sequences (GenBank accession numbers BC025724, BC016204, NM_015725, BC067131, BC011727, BC009881, and BC009830, respectively) and conservation of amino acids mutated in patients with LCA.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for RDH8 [accession number NM_015725], RDH10 [accession number BC067131], RDH11 [accession number BC011727], RDH12 [accession number BC025724], RDH13 [accession number BC009881], RDH14 [accession number BC009830], and mouse RDH12 [accession number BC016204])
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for GUCY2D, RPE65, CRX, AIPL1, RPGRIP1, CRB1, TULP1, LCA3, LCA5, and RP15)
    1. University of California Santa Cruz Genome Bioinformatics, http://genome.ucsc.edu/ (for the working draft of the human genome)

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