ArticleMolecular vision2009
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- A novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review.Medicine · 2026Review
- 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
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- The role of the Rx homeobox gene in retinal progenitor proliferation and cell fate specification.Mechanisms of development · 2018Article
- Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations.Scientific reports · 2017Article
- Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Birth defects research. Part C, Embryo today : reviews · 2015Review
- Mutation of SALL2 causes recessive ocular coloboma in humans and mice.Human molecular genetics · 2014Article
- Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development.Human molecular genetics · 2012Article
- RAX and anophthalmia in humans: evidence of brain anomalies.Molecular vision · 2012Article
- Eye development genes and known syndromes.Molecular genetics and metabolism · 2011Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
purposeMicrophthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component. Rx is a homeobox gene expressed early in the developing retina and is important in retinal cell fate specification as well as stem cell proliferation. We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia for RX mutations.
methodsWe used standard PCR and automated sequencing techniques to amplify and sequence each of the three RX exons. Patients' charts were reviewed for clinical information. The pathologic impact of the identified sequence variant was analyzed by computational methods using PolyPhen and PMut algorithms.
resultsIn addition to the polymorphisms we identified a single patient with coloboma having a heterozygous nucleotide change (g.197G>C) in the first exon that results in a missense mutation of arginine to threonine at amino acid position 66 (R66T). In silico analysis predicted R66T to be a deleterious mutation.
conclusionsSequence variations in RX are uncommon in patients with congenital ocular malformations, but may play a role in disease pathogenesis. We observed a missense mutation in RX in a patient with a small, typical chorioretinal coloboma, and postulate that the mutation is responsible for the patient's phenotype.
Indexed as
Identifiers
19158959PMC2628315W2096569762What OpenQuestion holds
Registered trials
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