Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

American journal of human genetics - 11 Mar 2011

Gal Andreas, Rau Isabella, El Matri Leila, Kreienkamp Hans-Jürgen, Fehr Susanne, Baklouti Karim, Chouchane Ibtissem, Li Yun, Rehbein Monika, Fuchs Josefine, Fledelius Hans C, Vilhelmsen Kaj, Schorderet Daniel F, Munier Francis L, Ostergaard Elsebet, Thompson Debra A, Rosenberg Thomas

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Eye
Share to Family

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Enzymologic

Share to Genes, Recessive

Share to Meiosis

Share to Microphthalmos

Share to Serine Endopeptidases

Share to Serine Proteases

Source

Open in PubMed Open full text

Identifiers

PMID: 21397065
DOI: 10.1016/j.ajhg.2011.02.006
PMCID: PMC3059417

Genes

PRSS56

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.PMID 21397065Read ↗

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.Semantic proximity Read ↗

Mutations in a novel serine protease PRSS56 in families with nanophthalmos.Semantic proximity Read ↗

Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.Semantic proximity Read ↗

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.Semantic proximity Read ↗

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.Semantic proximity Read ↗

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.Semantic proximity Read ↗

Clinical features of patients with mutations in genes for nanophthalmos.Semantic proximity Read ↗

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos.Semantic proximity Read ↗

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.Semantic proximity Read ↗

ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.Semantic proximity Read ↗

Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.Semantic proximity Read ↗

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.