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Thematic Review Series 2007

Genetic Causes of Bronchiectasis: Primary Ciliary Dyskinesia

Morillas H.N. · Zariwala M. · Knowles M.R.

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University of North Carolina, Chapel Hill, N.C., USA

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Respiration 2007;74:252–263

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Article / Publication Details

First-Page Preview
Abstract of Thematic Review Series 2007

Received: March 29, 2007
Accepted: April 02, 2007
Published online: March 09, 2007
Issue release date: May 2007

Number of Print Pages: 12
Number of Figures: 3
Number of Tables: 4

ISSN: 0025-7931 (Print)
eISSN: 1423-0356 (Online)

For additional information: http://www.karger.com/RES

Abstract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder reflecting abnormalities in the structure and function of motile cilia and flagella, causing impairment of mucociliary clearance, left-right body asymmetry, and sperm motility. Clinical manifestations include respiratory distress in term neonates, recurrent otosinopulmonary infections, bronchiectasis, situs inversus and/or heterotaxy, and male infertility. Genetic discoveries are emerging from family-based linkage studies and from testing candidate genes. Mutations in 2 genes, DNAI1 and DNAH5, frequently cause PCD as an autosomal recessive disorder. A clinical genetic test has been recently established for DNAI1 and DNAH5, which involves sequencing 9 exons that harbor the most common mutations. This approach will identify at least one mutation in these 2 genes in ∼25% of PCD patients. If biallelic mutations are identified, the test is diagnostic. If only one mutation is identified, the full gene may be sequenced to search for a trans-allelic mutation. As more disease-causing gene mutations are identified, broader genetic screening panels will further identify patients with PCD. Ongoing investigations are beginning to identify genetic mutations in novel clinical phenotypes for PCD, such as congenital heart disease and male infertility, and new associations are being established between ‘ciliary’ genetic mutations and clinical phenotypes.

© 2007 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Thematic Review Series 2007

Received: March 29, 2007
Accepted: April 02, 2007
Published online: March 09, 2007
Issue release date: May 2007

Number of Print Pages: 12
Number of Figures: 3
Number of Tables: 4

ISSN: 0025-7931 (Print)
eISSN: 1423-0356 (Online)

For additional information: http://www.karger.com/RES


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