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Abstract

Volume 19, Issue 5 (September 2017) 19, 515–520; DOI:10.4103/1008-682X.181227

Genetic factors contributing to human primary ciliary dyskinesia and male infertility

Zhi-Yong Ji, Yan-Wei Sha, Lu Ding, Ping Li

The Center for Reproductive Medicine, Xiamen Maternity and Child Care Hospital, No. 10 Zhenhai Road, Xiamen, China

Correspondence: Dr. P Li (saarc2001@sina.com)

Date of Submission 26-Oct-2015 Date of Decision 03-Jan-2016 Date of Acceptance 18-Apr-2016 Date of Web Publication 07-Jun-2016

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive molecular genetic testing is not considered the standard of care. Here, we provide an update of the progress on the identification of genetic factors related to PCD associated with male infertility, summarizing the underlying molecular mechanisms, and discuss the clinical implications of these findings. Further research in this field will impact the diagnostic strategy for male infertility, enabling clinicians to provide patients with informed genetic counseling, and help to adopt the best course of treatment for developing directly targeted personalized medicine.

Keywords: genetic factors; Kartagener syndrome; male infertility; primary ciliary dyskinesia

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