Gene Symbol: PRSS56
Description: protease, serine 56
Alias: MCOP6, serine protease 56
- Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine proteaseAndreas Gal
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Am J Hum Genet 88:382-90. 2011..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...
- Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and miceK Saidas Nair
Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
Nat Genet 43:579-84. 2011..Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG...
- Mutations in a novel serine protease PRSS56 in families with nanophthalmosAndrew Orr
Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
Mol Vis 17:1850-61. 2011..Identification of additional genes for nanophthalmos will improve our understanding of normal developmental regulation of eye growth...
- Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucomaDan Jiang
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
Mol Vis 19:2217-26. 2013Mouse serine protease 56 (Prss56) mutants show a phenotype of angle-closure glaucoma with a shortened ocular axial length. Mutations in the human PRSS56 gene are associated with posterior microphthalmia and nanopthalmos...
- Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 geneMariem Ben Said
Laboratoire de Microorganismes et Biomolécules, Centre de Biotechnologie de Sfax, Tunisia
Gene 528:288-94. 2013..gene mutations have, for instance, been associated with nanophthalmia, and mutations in the recently identified PRSS56 gene have been linked to PM. So far, these two forms of CMIC have been associated with 9 mutations in PRSS56...
- Biometric and molecular characterization of clinically diagnosed posterior microphthalmosSawsan R Nowilaty
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Am J Ophthalmol 155:361-372.e7. 2013..To biometrically and molecularly characterize clinically diagnosed posterior microphthalmos...