ArticleMolecular vision2016
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the
Article in Molecular vision, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 38 citations in OpenAlex.
- Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a NovelBiomedicines · 2025Article
- North Carolina Macular Dystrophy.Advances in experimental medicine and biology · 2025Review
- A novelMolecular vision · 2024Article
- Pseudocoloboma-like maculopathy with biallelicJournal of medical genetics · 2023Article
- How to Set Up Genetic Counselling for Inherited Macular Dystrophies: Focus on Genetic Characterization.International journal of molecular sciences · 2023Review
- Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.Frontiers in molecular neuroscience · 2023Review
- Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.American journal of human genetics · 2022Article
- A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.Human molecular genetics · 2021Article
- A novel duplication involvingMolecular vision · 2021Article
- Review
- A uniqueMolecular vision · 2020Article
- Case report: North Carolina macular dystrophy misdiagnosed as congenital ocular toxoplasmosis.Molecular vision · 2019Article
- Prdm13 is required for Ebf3+ amacrine cell formation in the retina.Developmental biology · 2018Article
- Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).Advances in experimental medicine and biology · 2018Article
- Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Scientific reports · 2017Article
- Benign Yellow Dot Maculopathy: A New Macular Phenotype.Ophthalmology · 2017Observational
- A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.Investigative ophthalmology & visual science · 2017Article
- New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot.Journal of vitreoretinal diseasesArticle
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD).
methodsA large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or saliva from six affected family members and three unaffected spouses was collected and DNA tested for linkage to the MCDR1 locus on chromosome 6q12. Three affected family members and two unaffected spouses underwent whole exome sequencing (WES) and subsequently, custom capture of the linkage region followed by next-generation sequencing (NGS). Standard PCR and dideoxy sequencing were used to further characterize the mutation.
resultsOf the 12 eyes examined in six affected individuals, all but two had Gass grade 3 macular degeneration features. Large central excavation of the retinal and choroid layers, referred to as a macular caldera, was seen in an age-independent manner in the grade 3 eyes. The calderas are unique to affected individuals with MCDR1. Genome-wide linkage mapping and haplotype analysis of markers from the chromosome 6q region were consistent with linkage to the MCDR1 locus. Whole exome sequencing and custom-capture NGS failed to reveal any rare coding variants segregating with the phenotype. Analysis of the custom-capture NGS sequencing data for copy number variants uncovered a tandem duplication of approximately 60 kb on chromosome 6q. This region contains two genes,
conclusionsThe cause of disease in the original family with MCDR1 and several others has been recently reported to be dysregulation of the
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27777503PMC5070570W2540345998What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.