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Article

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Clinical genetics - 1 Dec 2016

Girisha K M, Shukla A, Trujillano D, Bhavani G S, Hebbar M, Kadavigere R, Rolfs A

Abstract excerpt

Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and...

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Source

Identifiers

PMID: 26880018
DOI: 10.1111/cge.12762

Genes

IFT52

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.PMID 26880018Read ↗

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.Semantic proximity Read ↗

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.Semantic proximity Read ↗

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesionSemantic proximity Read ↗

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.Semantic proximity Read ↗

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.Semantic proximity Read ↗

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Semantic proximity Read ↗

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.Semantic proximity Read ↗

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.Semantic proximity Read ↗

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosisSemantic proximity Read ↗

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.Semantic proximity Read ↗

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Semantic proximity Read ↗

Ciliopathies: Coloring outside of the lines.Semantic proximity Read ↗

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