ArticleMolecular vision2008
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Trial
- Article
- Retinal Dystrophies Associated with Mutations in theCurrent issues in molecular biology · 2025Article
- CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.Ophthalmology. Retina · 2023Article
- Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklRedox biology · 2023Article
- Novel pathogenic3 Biotech · 2023Article
- A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.Investigative ophthalmology & visual science · 2020Article
- Mutations inHuman genome variation · 2020Article
- Identifying mutations in Tunisian families with retinal dystrophy.Scientific reports · 2016Article
- Suppression of Acid Sphingomyelinase Protects the Retina from Ischemic Injury.Investigative ophthalmology & visual science · 2016Article
- Human genetic disorders of sphingolipid biosynthesis.Journal of inherited metabolic disease · 2015Review
- Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?Molecular bioSystems · 2014Article
- Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Article
- Article
- Specific sphingolipid content decrease in Cerkl knockdown mouse retinas.Experimental eye research · 2013Article
- Expression and localization of CERKL in the mammalian retina, its response to light-stress, and relationship with NeuroD1 gene.Experimental eye research · 2013Article
- CERKL knockdown causes retinal degeneration in zebrafish.PloS one · 2013Article
- Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.Investigative ophthalmology & visual science · 2012Article
- A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.Molecular vision · 2012Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo investigate the genetic basis of autosomal recessive retinal degeneration in a large consanguineous family from Pakistan.
methodsOphthalmic examinations were conducted on family members to establish their diagnosis. Genomic DNA extracted from peripheral blood was used for homozygosity mapping to discover the chromosomal region that harbors the defective gene. Direct sequence analysis and restriction enzyme digestion were used to identify and confirm the defect in the gene.
resultsThere were three affected siblings in the family, each with limited peripheral vision and impaired visual acuity. We established linkage to a region on chromosome 2 that encompasses the RP26 locus. Upon sequencing the ceramide kinase-like (CERKL) gene, which is mutated in the original RP26 family, we identified a C>A transversion in exon 2 (c.316C>A) that substitutes an arginine residue with a serine (p.R106S) in the conserved nuclear localization signal sequence (KLKRR) of the protein. This mutation segregated with retinal degeneration in the Pakistani family and was not observed in the DNA of 174 ethnically matched unaffected controls.
conclusionsThis is the third reported mutation in CERKL causing retinal degeneration but is the first report to show that a single amino acid change in CERKL, rather than a null mutation, can cause retinal disease. Although the function of CERKL is still unknown, the mutation described herein confirms that the nuclear localization signal sequence is important in the physiologic function of the protein.
Indexed as
Identifiers
18978954PMC2576480W2150536076What OpenQuestion holds
Registered trials
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