ArticleEuropean journal of human genetics : EJHG2016
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation.Cell death & disease · 2024Article
- Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.Scientific reports · 2023Article
- Therapy Approaches for Stargardt Disease.Biomolecules · 2021Review
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- Antisense Oligonucleotide- and CRISPR-Cas9-Mediated Rescue of mRNA Splicing for a Deep Intronic CLRN1 Mutation.Molecular therapy. Nucleic acids · 2020Article
- Ocular genetics in the genomics age.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Review
- Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.The Journal of biological chemistry · 2019Article
- Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.JAMA network open · 2019Article
- The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.Molecular genetics & genomic medicine · 2019Article
- Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2019Article
- Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2019Article
- Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.Genetic epidemiology · 2019Article
- Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.The Journal of clinical investigation · 2018Article
- Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.American journal of human genetics · 2018Article
- First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.Neurogenetics · 2018Article
- Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.Molecular vision · 2018Article
- Toward an elucidation of the molecular genetics of inherited retinal degenerations.Human molecular genetics · 2017Review
- Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.American journal of human genetics · 2017Article
- Genomics advances the study of inbreeding depression in the wild.Evolutionary applications · 2016Review
- Molecular findings from 537 individuals with inherited retinal disease.Journal of medical genetics · 2016Article
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7 authors.
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Abstract
Several genes have been implicated in the autosomal recessive form of cone-rod dystrophy (CRD), but the majority of cases remain unsolved. We identified a homozygous interval comprising two known genes associated with the autosomal recessive form of CRD, namely RAB28 and PROM1, in a consanguineous family with clinical evidence of CRD. Both genes proved to be mutation negative upon sequencing of exons and canonical splice sites but whole-genome sequencing revealed a private variant located deep in intron 18 of PROM1. In silico and functional analyses of this variant using minigenes as splicing reporters revealed the integration of a pseudoexon in the mutant transcript, thereby leading to a premature termination codon and presumably resulting in a functional null allele. This is the first report of a deep intronic variant that acts as a splicing mutation in PROM1. The detection of such variants escapes the exon-focused techniques typically used in genetic analyses. Sequencing the entire genomic regions of known disease genes might identify more causal mutations in the autosomal recessive form of CRD.
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