ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 20 citations in OpenAlex.
- A comparative transcriptomic analysis provides new insights into the ecological adaptations in Ichthyophis bannanicus.BMC genomics · 2025Article
- Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice.Molecular autism · 2025Article
- Molecular analysis of RAX2-regulated retinal development using human retinal organoids at a single-cell resolution.Frontiers in cell and developmental biology · 2025Article
- Article
- Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.Ophthalmology. Retina · 2024Article
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.PLoS genetics · 2023Article
- Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.Frontiers in molecular neuroscience · 2023Review
- Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.Scientific reports · 2022Article
- Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies.Frontiers in medicine · 2022Review
- Article
- The rax homeobox gene is mutated in the eyeless axolotl, Ambystoma mexicanum.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Article
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.Orphanet journal of rare diseases · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
27 authors at 11 institutions in 5 countries.
Funding
Abstract
purposeRAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease.
methodsExome sequencing in a European cohort with inherited retinal disease (IRD) (n = 2086) was combined with protein structure modeling of RAX2 missense variants, bioinformatics analysis of deletion breakpoints, haplotyping of RAX2 variant c.335dup, and clinical assessment of biallelic RAX2-positive cases and carrier family members.
resultsBiallelic RAX2 sequence and structural variants were found in five unrelated European index cases, displaying nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) with an age of onset ranging from childhood to the mid-40s (average mid-30s). Protein structure modeling points to loss of function of the novel recessive missense variants and to a dominant-negative effect of the reported dominant RAX2 alleles. Structural variants were fine-mapped to disentangle their underlying mechanisms. Haplotyping of c.335dup in two cases suggests a common ancestry.
conclusionThis study supports a role for RAX2 as a novel disease gene for recessive IRD, broadening the mutation spectrum from sequence to structural variants and revealing a founder effect. The identification of biallelic RAX2 pathogenic variants in five unrelated families shows that RAX2 loss of function may be a nonnegligible cause of IRD in unsolved ARRP cases.
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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.