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Cited by 21Retinal Development and DisordersGenomics and Rare DiseasesGenetic and Kidney Cyst Diseases

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

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Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror·2016·Investigative Opthalmology & Visual Science
DOI 10.1167/iovs.15-18702PMC PMC4788094
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Abstract

PURPOSE: Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous hereditary retinal diseases that result in blindness due to photoreceptor degeneration. Mutations in the rhodopsin (RHO) gene are the most common cause of autosomal dominant RP (adRP) and are responsible for 16% to 35% of adRP cases in the Western population. Our purpose was to investigate the contribution of RHO to adRP in the Israeli and Palestinian populations. METHODS: Thirty-two adRP families participated in the study. Mutation detection was performed by whole exome sequencing (WES) and Sanger sequencing of RHO exons. Fluorescence PCR reactions of serially diluted samples were used to predict the percentage of mosaic cells in blood samples. RESULTS: Eight RHO disease-causing mutations were identified in nine families, with only one novel mutation, c.548-638dup91bp, identified in a family where WES failed to detect any causal variant. Segregation analysis revealed that the origin of the mutation is in a mosaic healthy individual carrying the mutation in approximately 13% of blood cells. CONCLUSIONS: This is the first report of the mutation spectrum of a known adRP gene in the Israeli and Palestinian populations, leading to the identification of seven previously reported mutations and one novel mutation. Our study shows that RHO mutations are a major cause of adRP in this cohort and are responsible for 28% of adRP families. The novel mutation exhibits a unique phenomenon in which an unaffected individual is mosaic for an adRP-causing mutation.

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  • The most common cause of autosomal dominant RP are pathogenic variants in the RHO gene, responsible for 16% to 35% of cases.

    “The most common cause of autosomal dominant RP are pathogenic variants in the RHO gene that are responsible for 16% to 35% of cases with autosomal dominant RP [127].”

    From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [127]

    The Abstract (Purpose; page not provided) says RHO mutations are the most common cause of autosomal dominant RP and account for 16%–35% of cases in the Western population. The citing sentence omits that population qualifier. The Discussion also reports a lower figure of 10.3% for France, so the paper does not establish the stated range for all populations. (LLM, conf=0.86)

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Metadata

Authors
Beryozkin, A., Levy, G., Blumenfeld, A., Meyer, S., Namburi, P., Morad, Y., Gradstein, L., Swaroop, A., Banin, E., & Sharon, D.
Affiliations
  • Hadassah Medical Center (IL)
  • Assaf Harofeh Medical Center (IL)
  • Soroka Medical Center (IL)
  • National Institutes of Health (US)
Corresponding author
  • Banin, Eyal
  • Sharon, Dror
ORCID
Venue
Investigative Opthalmology & Visual Science
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Published
2016-03-08
Volume
57
Issue
3
Pages
940
ISSN
  • 0146-0404 (ISSN-L)
  • 1552-5783
DOI
10.1167/iovs.15-18702
PMC
PMC4788094
OpenAlex
W2412378213
Cited by
21
References
2
Citations by year
2026: 2 · 2025: 2 · 2024: 5 · 2022: 1 · 2021: 4 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 1
FWCI
0.87
Type
journal article
Language
en
Open access
Licence
Locations
  • Investigative Ophthalmology & Visual Science (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
Funders
National Institutes of Health
Topics
  • Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Keywords
retinitis pigmentosa, rhodopsin gene, autosomal dominant retinitis pigmentosa, germline mosaicism, mosaic mutations, novel mutations, mutation spectrum, photoreceptor degeneration, segregation analysis
MeSH terms
Adolescent, Adult, Child, DNA, DNA Mutational Analysis, Ethnicity, Exons, Family, Female, Genes, Dominant, Genetic Testing, Humans, Israel, Male, Mosaicism, Mutation, Pedigree, Reference Values, Retinitis Pigmentosa, Rhodopsin, Prevalence, Polymerase Chain Reaction, Young Adult

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