DNAI1 mutations explain only 2% of primary ciliary dykinesia

Details

Serval ID
serval:BIB_F70D6C702E08
Type
Article: article from journal or magazin.
Collection
Publications
Title
DNAI1 mutations explain only 2% of primary ciliary dykinesia
Journal
Respiration
Author(s)
Failly  M., Saitta  A., Munoz  A., Falconnet  E., Rossier  C., Santamaria  F., de Santi  M. M., Lazor  R., DeLozier-Blanchet  C. D., Bartoloni  L., Blouin  J. L.
ISSN
1423-0356
Publication state
Published
Issued date
2008
Peer-reviewed
Oui
Volume
76
Number
2
Pages
198-204
Notes
Journal Article
Research Support, Non-U.S. Gov't
Abstract
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare recessive hereditary disorder characterized by dysmotility to immotility of ciliated and flagellated structures. Its main symptoms are respiratory, caused by defective ciliary beating in the epithelium of the upper airways (nose, bronchi and paranasal sinuses). Impairing the drainage of inhaled microorganisms and particles leads to recurrent infections and pulmonary complications. To date, 5 genes encoding 3 dynein protein arm subunits (DNAI1, DNAH5 and DNAH11), the kinase TXNDC3 and the X-linked RPGR have been found to be mutated in PCD. OBJECTIVES: We proposed to determine the impact of the DNAI1 gene on a cohort of unrelated PCD patients (n = 104) recruited without any phenotypic preselection. METHODS: We used denaturing high-performance liquid chromatography and sequencing to screen for mutations in the coding and splicing site sequences of the gene DNAI1. RESULTS: Three mutations were identified: a novel missense variant (p.Glu174Lys) was found in 1 patient and 2 previously reported variants were identified (p.Trp568Ser in 1 patient and IVS1+2_3insT in 3 patients). Overall, mutations on both alleles of gene DNAI1 were identified in only 2% of our clinically heterogeneous cohort of patients. CONCLUSION: We conclude that DNAI1 gene mutation is not a common cause of PCD, and that major or several additional disease gene(s) still remain to be identified before a sensitive molecular diagnostic test can be developed for PCD.
Pubmed
Web of science
Create date
19/12/2008 12:59
Last modification date
20/08/2019 17:23
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