ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2019
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- PROM1 and PROM2 expression differentially modulates clinical prognosis of cancer: a multiomics analysis.Cancer gene therapy · 2020Pooled it
- Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.Scientific reports · 2025Article
- Article
- Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation.Cell death & disease · 2024Article
- Article
- Prominin 1 and Tweety Homology 1 both induce extracellular vesicle formation.bioRxiv : the preprint server for biology · 2024Article
- Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.Investigative ophthalmology & visual science · 2023Article
- A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia.BMC ophthalmology · 2023Article
- Insights Into PROM1-Macular Disease Using Multimodal Imaging.Investigative ophthalmology & visual science · 2023Article
- Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family.BMC ophthalmology · 2021Article
- Modeling Cone/Cone-Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina.Translational vision science & technology · 2021Article
- Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy.Translational vision science & technology · 2020Article
- Review
- Compound heterozygous novel frameshift variants in theCold Spring Harbor molecular case studies · 2019Article
- Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.JAMA network open · 2019Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo characterize two patients with macular and rod-cone dystrophy and identify the genetic basis for disease.
methodOphthalmic examinations were performed for the family and the peripheral blood samples were collected for whole exome sequencing. The mutated sequences of PROM1 gene were cloned and expressed in cultured cell lines after transient transfection followed by analysis with confocal microscopy and bridge-PCR.
resultWe reported that two patients, brothers in a family, were diagnosed with macular and rod-cone dystrophy. Phenotypically, both patients experience progressive visual impairment and nyctalopia. The fundus examination showed macular and choroid dystrophy with pigment deposits in the macular region. Functionally, photoreceptor response to electrophysiological stimulation was significantly compromised with more severe decline in rods. Genetic analysis by whole exome sequencing revealed two novel compound heterogeneous point mutations in PROM1 gene that co-segregate with patients in an autosomal recessive manner. Specifically, the c.C1902G(p.Y634X) nonsense mutation results in a truncated, labile, and mislocalized protein, while the c.C1682+3A>G intronic mutation disrupts messenger RNA splicing.
conclusionOur findings have identified two novel deleterious mutations in PROM1 gene that are associated with hereditary macular and rod-cone dystrophy in human.
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