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

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.

European journal of human genetics : EJHG - 1 Sept 2024

Sentell Zachary T, Nurcombe Zachary W, Mougharbel Lina, Anastasio Natascia, Rivière Jean-Baptiste, Babayeva Sima, Goodyer Paul R, Torban Elena, Kitzler Thomas M

Abstract excerpt

Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve the kidney; however, no cases of isolated renal disease (i.e., nephronophthisis) have yet been reported. In an adult with a clinical presentation consistent with nephronophthisis, next-generation sequencing identified a rare homozygous nonsense variant in CC2D2A...

Read the complete abstract on PubMed

Topics

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

Share to Ciliopathies
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Homozygote

Share to Kidney Diseases, Cystic

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 38987663
DOI: 10.1038/s41431-024-01668-x
PMCID: PMC11368927

Genes

CC2D2A

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

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis.PMID 38987663Read ↗

Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.Semantic proximity Read ↗

A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12Semantic proximity Read ↗

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.Semantic proximity Read ↗

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.Semantic proximity Read ↗

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.Semantic proximity Read ↗

CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.Semantic proximity Read ↗

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.Semantic proximity Read ↗

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.Semantic proximity Read ↗

Compound heterozygous mutations in CC2D2A cause Meckel-Gruber syndrome: a case report and review of the literature.Semantic proximity Read ↗

Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.Semantic proximity Read ↗

Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report.Semantic proximity Read ↗

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.Semantic proximity Read ↗

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