Complexity of Phenotype–Genotype Correlations in Spanish Patients with<i>RDH12</i>Mutations

Valverde, Diana; Pereiro, Inés; Vallespín, Elena; Ayuso, Carmen; Borrego, Salud; Baiget, Montserrat

doi:10.1167/iovs.08-2083

Cited by 25 publications

(23 citation statements)

References 11 publications

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“…Another study closely followed and reported 11 distinct RDH12 mutations in homozygosity or compound heterozygosity in 8/44 patients with LCA who were affected with the congenital severe yet progressive rod-cone dystrophy form of the disease [16]. To date, over 60 different RDH12 mutations have been reported predominantly in LCA patients [15–17, 21, 23–27] but also in early-onset retinal dystrophy [8, 15, 20, 21, 24, 25], in families with arRP [26, 27], and in a family with autosomal dominant RP [19]. These findings above have shown that mutations in the human RDH12 gene are responsible for severe forms of blindness.…”

Section: Discussionmentioning

confidence: 99%

Exome Sequencing Identified a RecessiveRDH12Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Gong

Wei

Huang

et al. 2015

Journal of Ophthalmology

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Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437T

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Section: Discussionmentioning

confidence: 99%

Exome Sequencing Identified a RecessiveRDH12Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Gong

Wei

Huang

et al. 2015

Journal of Ophthalmology

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“…While human RDH12 and other mammalian RDH12-related retinaldehyde reductases have been a focus of numerous studies [12-14, 32, 36-38], no analysis has been performed to trace the origins of this gene family. To address this question, we expanded our search of RDH12 homologs to non-vertebrate species, for which whole genome sequencing data became available.…”

Section: Resultsmentioning

confidence: 99%

Identification and characterization of retinoid-active short-chain dehydrogenases/reductases in Drosophila melanogaster

Belyaeva

Lee

Kolupaev

et al. 2009

Biochimica et Biophysica Acta (BBA) - General Subjects

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Background In chordates, retinoid metabolism is an important target of short-chain dehydrogenases/reductases (SDRs). It is not known whether SDRs play a role in retinoid metabolism of protostomes, such as Drosophila melanogaster. Methods Drosophila genome was searched for genes encoding proteins with ∼50% identity to human retinol dehydrogenase 12 (RDH12). The corresponding proteins were expressed in Sf9 cells and biochemically characterized. Their phylogenetic relationships were analyzed using PHYLIP software. Results A total of six Drosophila SDR genes were identified. Five of these genes are clustered on chromosome 2 and one is located on chromosome X. The deduced proteins are 300 to 406 amino acids long and are associated with microsomal membranes. They recognize all-trans-retinaldehyde and all-trans-3-hydroxyretinaldehyde as substrates and prefer NADPH as a cofactor. Phylogenetically, Drosophila SDRs belong to the same branch of the SDR superfamily as human RDH12, indicating a common ancestry early in bilaterian evolution, before protostome-deuterostome split. Conclusions Similarities in the substrate and cofactor specificities of Drosophila versus human SDRs suggest conservation of their function in retinoid metabolism throughout protostome and deuterostome phyla. General Significance The discovery of Drosophila retinaldehyde reductases sheds new light on the conversion of β-carotene and zeaxantine to visual pigment and provides a better understanding of the evolutionary roots of retinoid-active SDRs.

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“…This mutation was not reported in a recent investigation of RDH12 mutations associated with severe and early onset retinal dystrophies in Spanish patients. 8 Both mutations can potentially cause significant alterations in protein structure and activity; it is still unclear whether the loss of RDH12 function may lead to retinal dystrophy by reducing visual pigment regeneration or by determining production and storage of toxic intermediates.…”

Section: Discussionmentioning

confidence: 99%

Novel RDH12 sequence variations in Leber congenital amaurosis

Sodi

Caputo

Passerini

et al. 2010

Journal of American Association for Pediatric Ophthalmology and

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Complexity of Phenotype–Genotype Correlations in Spanish Patients withRDH12Mutations

Abstract: The RDH12-associated phenotype is not homogeneous, the position and nature of the mutations clearly influence the pathologic expression of this disease.

Cited by 25 publications

References 11 publications

Exome Sequencing Identified a RecessiveRDH12Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Exome Sequencing Identified a RecessiveRDH12Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Identification and characterization of retinoid-active short-chain dehydrogenases/reductases in Drosophila melanogaster

Novel RDH12 sequence variations in Leber congenital amaurosis

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