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Article

Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.

Clinical genetics - 1 Sept 2026

Chen Dandan, Wang Yuhan, Ren Pengyao, Zhou Yangyang, Zhang Chun, Wang Waner, Geng Jiayi, Chai Yitong, Xie Jiajia, Li Shuangjie, Yan Zhongyi, Wang Xiaoqing, Zhang Lei

Abstract excerpt

IFT172 is a core component of intraflagellar transport complex B (IFT-B), and pathogenic IFT172 variants disrupt ciliary transport, receptor localization, and tissue-specific signaling. This review summarizes evidence linking IFT172 dysfunction to neurological, retinal, skeletal, renal, and syndromic ciliopathy phenotypes, with emphasis on Bardet-Biedl syndrome, Joubert-spectrum disease, orofaciodigital syndrome,...

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Source

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Identifiers

PMID: 42346201
DOI: 10.1111/cge.70201
PMCID: PMC13432014

Genes

IFT172

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 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

Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.PMID 42346201Read ↗

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

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Semantic proximity Read ↗

Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signalingSemantic proximity Read ↗

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

Architecture of the IFT ciliary trafficking machinery and interplay between its componentsSemantic proximity Read ↗

Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.Semantic proximity Read ↗

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

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

Motile and non-motile cilia in human pathology: from function to phenotypes.Semantic proximity Read ↗

Intraflagellar transport: from molecular characterisation to mechanismSemantic proximity Read ↗

<i>Ift172</i> conditional knockout mice exhibit rapid retinal degeneration and protein trafficking defectsSemantic proximity Read ↗

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Semantic proximity Read ↗

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