Mutation of POC1B in a severe syndromic retinal ciliopathy.

doi:10.1002/humu.22618

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

Community

Back to search

Article

Mutation of POC1B in a severe syndromic retinal ciliopathy.

Human mutation - 1 Oct 2014

Beck Bodo B, Phillips Jennifer B, Bartram Malte P, Wegner Jeremy, Thoenes Michaela, Pannes Andrea, Sampson Josephina, Heller Raoul, Göbel Heike, Koerber Friederike, Neugebauer Antje, Hedergott Andrea, Nürnberg Gudrun, Nürnberg Peter, Thiele Holger, Altmüller Janine, Toliat Mohammad R, Staubach Simon, Boycott Kym M, Valente Enza Maria, Janecke Andreas R, Eisenberger Tobias, Bergmann Carsten, Tebbe Lars, Wang Yang, Wu Yundong, Fry Andrew M, Westerfield Monte, Wolfrum Uwe, Bolz Hanno J

Abstract excerpt

We describe a consanguineous Iraqi family with Leber congenital amaurosis (LCA), Joubert syndrome (JBTS), and polycystic kidney disease (PKD). Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellum

Share to Cilia

Share to Eye Abnormalities

Share to Gene Knockdown Techniques

Share to Iraq

Share to Kidney Diseases, Cystic

Share to Leber Congenital Amaurosis

Source

Open in PubMed Open full text

Identifiers

PMID: 25044745
DOI: 10.1002/humu.22618
PMCID: PMC4425427

Variants

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

Mutation of POC1B in a severe syndromic retinal ciliopathy.PMID 25044745Read ↗

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod DystrophySemantic proximity Read ↗

Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.Semantic proximity Read ↗

Knockdown of poc1b causes abnormal photoreceptor sensory cilium and vision impairment in zebrafish.Semantic proximity Read ↗

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsSemantic proximity Read ↗

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Semantic proximity Read ↗

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Semantic proximity Read ↗

Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.Semantic proximity Read ↗

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.Semantic proximity Read ↗

The morbid genome of ciliopathies: an update.Semantic proximity Read ↗

In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells.Semantic proximity Read ↗

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.Semantic proximity Read ↗

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