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J. Clin. Med. 2014, 3(2), 491-503; doi:10.3390/jcm3020491
Review

Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives

1,2,3
, 1,2,3
 and 1,2,3,*
Received: 21 February 2014; in revised form: 24 March 2014 / Accepted: 24 March 2014 / Published: 9 May 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
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Abstract: Primary ciliary dyskinesia (PCD) is a heterogeneous autosomal recessive condition affecting around 1:15,000. In people with PCD, microscopic motile cilia do not move normally resulting in impaired clearance of mucus and debris leading to repeated sinopulmonary infection. If diagnosis is delayed, permanent bronchiectasis and deterioration of lung function occurs. Other complications associated with PCD include congenital heart disease, hearing impairment and infertility. A small number of longitudinal studies suggest that lung function deteriorates before diagnosis of PCD but may stabilise following diagnosis with subsequent specialist management. Early diagnosis is therefore essential, but for a number of reasons referral for diagnostic testing is often delayed until older childhood or even adulthood. Functional diagnostic tests for PCD are expensive, time consuming and require specialist equipment and scientists. In the last few years, there have been considerable developments to identify genes associated with PCD, currently enabling 65% of patients to be identified by bi-allelic mutations. The rapid identification of new genes continues. This review will consider the evidence that early diagnosis of PCD is beneficial. It will review the recent advances in identification of PCD-associated genes and will discuss the role of genetic testing in PCD. It will then consider whether screening for PCD antenatally or in the new born is likely to become a feasible and acceptable for this rare disease.
Keywords: primary ciliary dyskinesia; cystic fibrosis; genetic testing; screening; mutation; cilia; diagnosis primary ciliary dyskinesia; cystic fibrosis; genetic testing; screening; mutation; cilia; diagnosis
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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MDPI and ACS Style

Collins, S.A.; Walker, W.T.; Lucas, J.S. Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives. J. Clin. Med. 2014, 3, 491-503.

AMA Style

Collins SA, Walker WT, Lucas JS. Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives. Journal of Clinical Medicine. 2014; 3(2):491-503.

Chicago/Turabian Style

Collins, Samuel A.; Walker, Woolf T.; Lucas, Jane S. 2014. "Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives." J. Clin. Med. 3, no. 2: 491-503.

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