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...
Topics
- Humans
- Alleles
- Cilia
- Ciliopathies
- Exome Sequencing
- Heart Defects, Congenital
- Mutation
- Phenotype