Ciliary Dyskinesia With Defective Radial Spokes

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Retrieved

2019-09-22

Source

Omim

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Genes

DNAAF3, DRC1, DNAI1, CCDC151, ARMC4, FOXJ1, DNAAF4, CCDC40, RSPH1, CCDC114, DNAH9, ZMYND10, LRRC6, PIH1D3, CCDC65, CFAP300, CFAP221, DNAH1, CCDC103, RSPH3, TTC25, SPEF2, CFAP298, MCIDAS, HYDIN, DNAAF5, RPGR, SPAG1, GAS8, STK36, OFD1, GAS2L2, CCNO, DNAH5, LRRC56, DNAJB13, DNAH11, CCDC39, DNAI2, SLIT2, AP1B1, C1orf127, RSPH9, NME8, PCBD1, DNAAF1, RSPH4A, AK7, CDO1, DNAH6, CFTR, SIT1, TCTE3, MBL2, RFX1, NME7, TXN, TEKT1, DNAL1, NME5, WDR19, DNAH7, CHD7, DPCD, CDON, NTM, ACVR2B

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Sturgess et al. (1979) studied 3 sibs with chronic respiratory disease. Electron microscopy of respiratory tract cilia showed a 'new' abnormality of the ciliary axoneme, namely, lack of the radial spokes. The cilia showed an eccentric central pair of tubules, but otherwise had a normal central sheath, outer-doublet microtubules, nexin links and dynein arms. The cilia were immotile and mucociliary clearance was completely lacking, as in the Kartagener syndrome, but normal in the parents and a clinically unaffected sib. The sperm of the affected male sib showed morphologic changes identical to those in respiratory cilia and were immotile.

See CILD1 (244400).