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

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.

Human genetics - 1 Jan 2017

Holt R, Ugur Iseri S A, Wyatt A W, Bax D A, Gold Diaz D, Santos C, Broadgate S, Dunn R, Bruty J, Wallis Y, McMullan D, Ogilvie C, Gerrelli D, Zhang Y, Ragge Nicola

Abstract excerpt

Anophthalmia, microphthalmia, and coloboma are a genetically heterogeneous spectrum of developmental eye disorders and affect around 30 per 100,000 live births. OLFM2 encodes a secreted glycoprotein belonging to the noelin family of olfactomedin domain-containing proteins that modulate the timing of neuronal differentiation during development. OLFM2 SNPs have been associated with open angle glaucoma in a...

Read the complete abstract on PubMed

Topics

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

Share to Extracellular Matrix Proteins
Share to Eye

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Abnormalities

Share to Eye Proteins

Share to Gene Deletion

Share to Glaucoma, Open-Angle

Share to Glycoproteins

Share to High-Throughput Nucleotide Sequencing

Source

Identifiers

PMID: 27844144
DOI: 10.1007/s00439-016-1745-8

Genes

OLFM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.PMID 27844144Read ↗

Homozygous null mutation in ODZ3 causes microphthalmia in humans.Semantic proximity Read ↗

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.Semantic proximity Read ↗

Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.Semantic proximity Read ↗

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.Semantic proximity Read ↗

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.Semantic proximity Read ↗

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Semantic proximity Read ↗

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.Semantic proximity Read ↗

The Molecular Basis of Human Anophthalmia and MicrophthalmiaSemantic proximity Read ↗

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.Semantic proximity Read ↗

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.Semantic proximity Read ↗

Conserved genetic pathways associated with microphthalmia, anophthalmia, and colobomaSemantic proximity Read ↗

Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia.Semantic proximity Read ↗

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