Ciliary Dyskinesia, Primary, 4

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Retrieved

2019-09-22

Source

Omim

Trials

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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

Drugs

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For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400).

Mapping

Jeganathan et al. (2004) studied 4 Israeli Druze families segregating primary ciliary dyskinesia. Six of the 7 affected individuals had situs inversus, and electron microscopy defined an ultrastructural phenotype of partial absence of the inner dynein arms. In 3 of the 4 families, the disorder showed linkage to 15q13.1-q15.1 (maximum multipoint lod score of 3.2 at alpha (proportion of linked families) = 0.7). A 17-cM critical region was defined by recombination events at D15S1012 and D15S1048.