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Updated: Sep 13, 2025

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
[Two cases of skeletal ciliopathies in one family]
Georgi Stefanov Kirov1, Frauke Schmidt2, Senem Elena Alsat-Krenz1
1Geburtshilfe und Pränatalmedizin, Evangelisches Jung Stilling Krankenhaus GmbH, Siegen, Germany.
Abstract:
Cilia are thin extensions on the cells of eukaryotic organisms. They are formed by a special protein transport mechanism - the intraflagellar transporter (IFT). The IFT consists of two proteins: complex A and complex B. Mutations in the genes of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) lead to the development of skeletal ciliopathies. These include Sensenbrenner, Jeune, and short-rib polydactyly syndrome [1,2]. We report two cases of different ciliopathies in a non-related family; both parents are heterozygous carriers of a pathogenic mutation in the IFT122 gene.
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