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

doi:10.1038/s41431-025-01810-3

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Article

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

European journal of human genetics : EJHG - 1 Mar 2025

Haïm David, Roux Nathalie, Boutaud Lucile, Verlin Laure, Quélin Chloé, Moncler Candice, Bourgon Nicolas, Achaiia Amale, Roth Philippe, Marijon Pierre, Vanlieferinghen Sarah, Thomas Sophie, Attié-Bitach Tania

Abstract excerpt

Ciliopathies are rare genetic diseases marked by considerable phenotypic heterogeneity and overlap. Among the key mechanisms of cilium biology, its compartmentalization is achieved through gating complexes and active transport such as intraflagellar transport (IFT). Among the IFT components, IFT2...

Topics

Humans
Bardet-Biedl Syndrome
Cilia
Ciliopathies
Pallister-Hall Syndrome
Phenotype
Short Rib-Polydactyly Syndrome

Source

Open in PubMed

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Identifiers

PMID: 39955445
DOI: 10.1038/s41431-025-01810-3
PMCID: PMC11894207

Genes

IFT27

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-39955445-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.