Ciliary Dyskinesia, Primary, 16

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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-16 (CILD16) is caused by homozygous mutation in the DNAL1 gene (610062) on chromosome 14q24.

Description

Primary ciliary dyskinesia-16 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (summary by Mazor et al., 2011).

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

Clinical Features

Mazor et al. (2011) reported 3 patients, including 2 sibs, from 2 consanguineous Bedouin families with primary ciliary dyskinesia. The patients had classic features of the disorder, including neonatal respiratory distress, chronic sinopulmonary infection leading to severe morbidity, and complete situs inversus. Light microscopy showed absent or weakened ciliary movement, and electronic microscopy showed absence of outer ciliary dynein arms.

Molecular Genetics

By linkage analysis followed by candidate gene sequencing in 3 patients with primary ciliary dyskinesia, Mazor et al. (2011) identified a homozygous mutation in the DNAL1 gene (N150S; 610062.0001). Heterozygous mutation carriers were not clinically affected.