Ciliary Dyskinesia, Primary, 10

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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

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A number sign (#) is used with this entry because of evidence that primary ciliary dyskinesia-10 (CILD10) is caused by homozygous mutation in the KTU gene (DNAAF2; 612517) on chromosome 14q21.

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

Clinical Features

Omran et al. (2008) reported 3 individuals with primary ciliary dyskinesia from 2 families, both consanguineous, who carried mutations in the KTU gene. In all affected individuals there was no detectable KTU protein, and transmission electron microscopy of respiratory cilia and sperm tails identified abnormal axonemal dynein arms. All 3 affected individuals suffered from chronic otitis media, sinusitis, and recurrent pneumonia since birth. Two of the 3 had situs inversus totalis and 1 had situs solitus.

Molecular Genetics

Among affected individuals from 112 families with primary ciliary dyskinesia, Omran et al. (2008) identified loss-of-function mutations in the KTU gene (612517.0001-612517.0002) in 3 individuals from 2 consanguineous families.