Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa

Fingert, John H.; Oh, Kean T.; Chung, Mina; Scheetz, Todd E.; Andorf, Jeaneen L.; Johnson, R. H.; Sheffield, Val C.; Stone, Edwin M.

doi:10.1001/archopht.126.9.1301

Cited by 45 publications

(43 citation statements)

References 51 publications

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“…It is estimated that RDH12 mutations account for approximately 3–7% of autosomal recessive retinal dystrophy cases [19–23]. Mutations in RDH12 as a cause of retinal dystrophy were first reported by Janecke et al [15] in patients with early-onset retinal dystrophy.…”

Section: Discussionmentioning

confidence: 99%

“…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%

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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%

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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“…A DNA sequencing assay to screen affected members of the pedigree for disease-causing mutations was designed to encompass the entire coding sequence of FRMD7 using standard methods. 20 The oligonucleotide primer sequences are available on request. PCR products were sequenced using fluorescent dideoxynucleotides on an Applied Biosystems (ABI, Foster City, CA) model 3730 sequencer.…”

Section: Patients Materials and Methodsmentioning

confidence: 99%

Novel IntragenicFRMD7Deletion in a Pedigree with Congenital X-Linked Nystagmus

Fingert

Roos

Eyestone

et al. 2010

Ophthalmic Genetics

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“…Since its discovery, RDH12 has been the subject of great interest because mutations in RDH12 have been genetically linked to severe early-onset autosomal recessive retinal dystrophy (71)(72)(73). Human RDH12 is expressed almost exclusively in photoreceptor cells.…”

Section: Reduction Of Retinaldehyde Back To Retinolmentioning

confidence: 99%

Enzymology of retinoic acid biosynthesis and degradation

Kedishvili

2013

Journal of Lipid Research

170

165

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This article is available online at http://www.jlr.org ( 10 ), and regulation of energy homeostasis ( 11,12 ). atRA exerts its actions by serving as an activating ligand of nuclear atRA receptors [retinoid acid receptor (RAR) ␣ , RAR ␤ , and RAR ␥ ] and peroxisome proliferator-activated receptors (PPAR) ␤ / ␦ , which form heterodimers with retinoid X receptors ( 13,14 ). The actions of the RARs are described in more detail in this thematic series by RochetteEgly and colleagues. The concentration of atRA during embryonic development is tightly controlled in a spatial and temporal manner, and in adult tissues, it is maintained within a very narrow range that is specifi c for each given tissue. If the control mechanisms fail and the concentration of atRA exceeds or falls below the optimal range, tissues and cells undergo pathophysiological changes that in most severe cases can lead to disease. Thus, the maintenance of optimal atRA levels is essential for life. This review focusses on recent fi ndings regarding the mechanisms that control atRA homeostasis, with specifi c emphasis on the enzymes involved in atRA biosynthesis and degradation. All-trans -retinoic acid (atRA) is a highly potent derivative of vitamin A that is required for virtually all essential physiological processes and functions because of its involvement in transcriptional regulation of over 530 different genes ( 1, 2 ). For example, atRA is necessary for differentiation and development of fetal and adult tissues, stem cell differentiation, and apoptosis ( 3-7 ), and for support of reproductive functions ( 8, 9 ), immune response

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Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa

Cited by 45 publications

References 51 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

Novel IntragenicFRMD7Deletion in a Pedigree with Congenital X-Linked Nystagmus

Enzymology of retinoic acid biosynthesis and degradation

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