Ciliary Dyskinesia, Primary, 37

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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-37 (CILD37) is caused by homozygous mutation in the DNAH1 gene (603332) on chromosome 3p21. One such family has been reported.

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

Clinical Features

Imtiaz et al. (2015) reported a Saudi Arabian woman who presented at age 29 years for treatment of infertility. Her medical history included chronic rhinitis at age 13 years, with frequent coughing, wheezing, and nasal discharge; she was diagnosed with left lung bronchitis. Evaluation at age 29 included chest x-ray and CT scan that revealed dextrocardia with right-sided aortic arch and gastric bubble on the right, indicative of situs inversus. In addition, there was bronchial wall thickening with mild bronchiectasis in the left middle and right lower lobes. Audiometric evaluation showed mild conductive hearing loss. In vitro fertilization was successful, and the proband gave birth to a healthy boy. She had a sister who had been diagnosed with CILD but for whom clinical details were not available. Imtiaz et al. (2015) designated the phenotype a subtype of primary ciliary dyskinesia, Kartagener syndrome, based on the presence of situs inversus in addition to chronic sinusitis and bronchiectasis.

Mapping

In a consanguineous Saudi Arabian family in which 2 sisters had primary ciliary dyskinesia, Imtiaz et al. (2015) performed homozygosity mapping and identified a single region at chromosome 3p21 (chr3:31,261,252-54,307,163; GRCh37) that was homozygous in the affected sisters and heterozygous in unaffected members of the family.

Molecular Genetics

In 2 Saudi Arabian sisters with primary ciliary dyskinesia mapping to chromosome 3p21, Imtiaz et al. (2015) sequenced the candidate gene DNAH1 and identified homozygosity for a missense mutation (K1154Q; 603332.0005) that segregated fully with disease in the family and was not found in 600 ethnically matched control chromosomes.