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Article

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies.

HGG advances - 15 Jan 2026

Rushforth Rebekah, Reynolds Kurt, Estes Steven I, Nolan Daniel K, Mori Mari, Koboldt Daniel C, Hunter Jesse M, Stottmann Rolf W

Abstract excerpt

The primary cilium is a small organelle that plays key roles in cellular signaling. Defects in primary cilia formation, morphology, and function cause a heterogeneous group of developmental syndromes termed ciliopathies. The inturned planar cell polarity protein (INTU) gene acts in the CPLANE complex to facilitate ciliogenesis and support cilia signaling. Bi-allelic genetic variants in INTU have previously been...

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Identifiers

PMID: 40968537
DOI: 10.1016/j.xhgg.2025.100518
PMCID: PMC12524021

Genes

INTU

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.

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