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

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Clinical genetics - 1 Nov 2017

Bondeson M-L, Ericson K, Gudmundsson S, Ameur A, Pontén F, Wesström J, Frykholm C, Wilbe M

Abstract excerpt

Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Base Pairing

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

Share to Ciliopathies

Share to Codon, Nonsense

Share to Genes, Recessive

Share to Genetic Loci

Share to Pregnancy Outcome

Source

Identifiers

PMID: 28295209
DOI: 10.1111/cge.13012

Genes

CEP55

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

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.PMID 28295209Read ↗

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.Semantic proximity Read ↗

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome.Semantic proximity Read ↗

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.Semantic proximity Read ↗

Biallelic missense CEP55 variants cause prenatal MARCH syndrome.Semantic proximity Read ↗

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.Semantic proximity Read ↗

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathiesSemantic proximity Read ↗

Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy Spectrum.Semantic proximity Read ↗

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.Semantic proximity Read ↗

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes.Semantic proximity Read ↗

Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.Semantic proximity Read ↗

Expanding the spectrum of CEP55-associated disease to viable phenotypes.Semantic proximity Read ↗

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.Semantic proximity Read ↗

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