ArticleAmerican journal of human genetics2011
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.Nature genetics · 2013Pooled it
- A clearer view of PRSS56 in eyes with myopia.Cell research · 2026Article
- Increased PRSS56 expression is a causal factor and therapeutic target for human axial high myopia.Cell research · 2026Article
- Whole-exome sequencing identifies PRSS56 variants in Chinese patients with microphthalmia.BMC medical genomics · 2026Article
- Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.International journal of molecular sciences · 2025Article
- Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.Investigative ophthalmology & visual science · 2025Article
- A biometric survey of known and prospective murine models of posterior microphthalmia-nanophthalmia.Experimental eye research · 2025Article
- Identification of pathogenic variants for the development of ultra-long axial length in myopic children.PloS one · 2025Article
- A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.Frontiers in genetics · 2023Article
- Posterior microphthalmos with achievement of good visual acuity and disappearance of papillomacular retinal folds: a case report.BMC ophthalmology · 2022Article
- A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.Human molecular genetics · 2022Article
- Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.BMC pediatrics · 2022Article
- Zebrafish: An In Vivo Screening Model to Study Ocular Phenotypes.Translational vision science & technology · 2022Article
- Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia.Investigative ophthalmology & visual science · 2021Article
- Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.Genes · 2021Review
- Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.American journal of human genetics · 2021Article
- Retinal Stem Cell 'Retirement Plans': Growth, Regulation and Species Adaptations in the Retinal Ciliary Marginal Zone.International journal of molecular sciences · 2021Review
- Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.PLoS genetics · 2021Article
- Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.Scientific reports · 2020Article
- Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure.Disease models & mechanisms · 2020Article
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Authors and funding
17 authors at 8 institutions in 5 countries.
Funding
Abstract
Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p.Trp309Ser) or compound heterozygous for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in five patients with arMCOP from a consanguineous Tunisian family. In one patient with MCOP from the Faroe Islands and in another one from Turkey, no PRSS56 mutation was detected, suggesting nonallelic heterogeneity of the trait. Using RT-PCR, PRSS56 transcripts were detected in samples derived from the human adult retina, cornea, sclera, and optic nerve. The expression of the mouse ortholog could be first detected in the eye at E17 and was maintained into adulthood. The predicted PRSS56 protein is a 603 amino acid long secreted trypsin-like serine peptidase. The c.1066dupC is likely to result in a functional null allele, whereas the two point mutations predict the replacement of evolutionary conserved and functionally important residues. Molecular modeling of the p.Trp309Ser mutant suggests that both the affinity and reactivity of the enzyme toward in vivo protein substrates are likely to be substantially reduced.
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