ArticleJapanese journal of ophthalmology2012
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
Article in Japanese journal of ophthalmology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Posterior microphthalmos with achievement of good visual acuity and disappearance of papillomacular retinal folds: a case report.BMC ophthalmology · 2022Article
- Ablation of mpeg+ Macrophages Exacerbates mfrp-Related Hyperopia.Investigative ophthalmology & visual science · 2021Article
- The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.Scientific reports · 2020Article
- Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.Human genetics · 2019Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- Wnt Binding Affinity Prediction for Putative Frizzled-Type Cysteine-Rich Domains.International journal of molecular sciences · 2019Article
- Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Journal of human genetics · 2018Article
- Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.Acta ophthalmologica · 2014Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report a case of posterior microphthalmos caused by novel compound heterozygous mutations in the membrane-type frizzled-related protein (MFRP) gene.
methodsA 9-year-old girl with posterior microphthalmos underwent a standard ophthalmological examination and genetic screening by direct sequencing.
resultsThe patient had a short axial length, high hyperopia, crowded optic discs, and dilation and tortuosity of the retinal vessels. No signs of retinitis pigmentosa were present. A diagnosis of posterior microphthalmos rather than nanophthalmos was made because the corneal diameter and anterior chamber depth were normal. Genetic analysis revealed two novel nonsense mutations in the MFRP gene, Q123X and W443X. Her parents were heterozygous carriers of one of the mutations.
conclusionsPosterior microphthalmos can be caused by nonsense compound heterozygous mutations in the MFRP gene.
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