Article
Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.
Ophthalmic genetics - 1 Jun 2025
Koce Maša, Fakin Ana, Markelj Špela, Debeljak Maruša, Kovač Jernej, Lisec Ajda, Bertok Sara, Meglič Anamarija
Abstract excerpt
BACKGROUND: The IFT140 gene is one of many genes involved in the synthesis of proteins needed for cilium function. Ciliopathies are a group of disorders associated with the dysfunction of ciliary structures and express as an individual organ system disease as well as multisystem disorders. Dysfunctional cilia typically manifest as pleiotropic clinical features, reflecting their widespread distribution and varied...
Topics
- Humans
- Male
- Carrier Proteins
- Female
- Mutation
- Ciliopathies
- Retinitis Pigmentosa
- Child
- Situs Inversus