Recent advances in primary ciliary dyskinesia genetics

• Published in: Journal of Medical Genetics Vol. 52; no. 1; pp. 1 - 9
• Main Authors: Kurkowiak, Małgorzata, Ziętkiewicz, Ewa, Witt, Michał
• Format: Journal Article Book Review
• Language: English
• Published: England BMJ Publishing Group Ltd 01.01.2015; BMJ Publishing Group LTD; BMJ Publishing Group
• Subjects: Axonemal Dyneins - genetics; Axonemal Dyneins - metabolism; Axoneme - ultrastructure; Cell biology; Cilia; Cilia - physiology; Cilia - ultrastructure; Diagnosis; Diagnostics; Dyskinesia; Genetic screening; Genetic Testing - methods; Genetics; Humans; Infertility; Kartagener Syndrome - diagnosis; Kartagener Syndrome - genetics; Kartagener Syndrome - pathology; Lung diseases; Microscopy; Microscopy, Electron, Transmission; Molecular genetics; Phenotypes; Primary ciliary dyskinesia; Proteins; Reproductive system; Review; Sinusitis; Sperm; Streptococcus infections; Structure-function relationships; Ultrastructure; Whole genome sequencing; Cell biology; Genetics; Diagnostics; Molecular genetics
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmedgenet-2014-102755

Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and requires a well-described clinical phenotype combined with the identification of abnormalities in ciliary ultrastructure and/or beating pattern as well as the recognition of genetic cause of the disease. Regarding the pace of identification of PCD-related genes, a rapid acceleration during the last 2–3 years is notable. This is the result of new technologies, such as whole-exome sequencing, that have been recently applied in genetic research. To date, PCD-causative mutations in 29 genes are known and the number of causative genes is bound to rise. Even though the genetic causes of approximately one-third of PCD cases still remain to be found, the current knowledge can already be used to create new, accurate genetic tests for PCD that can accelerate the correct diagnosis and reduce the proportion of unexplained cases. This review aims to present the latest data on the relations between ciliary structure aberrations and their genetic basis.