Nonsense Mutation in Coiled‐Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia |
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| Authors: | Santiago Rodriguez Philip A. I. Guthrie Tom R. Gaunt Hager Z. Omar Mohammad Mubarak Khalid K. Alharbi Ammar C. Al‐Rikabi Ian N. M. Day |
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| Affiliation: | 1. Bristol Genetic Epidemiology Laboratories (BGEL), University of Bristol, Bristol BS8 2BN, United Kingdom;2. MRC Integrative Epidemiology Unit (IEU), School of Social and Community Medicine, University of Bristol, Bristol, United Kingdom;3. College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia;4. Histopathology Unit, Department of Pathology & Laboratory Medicine, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Kingdom of Saudi Arabia;5. Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, Riyadh, Kingdom of Saudi Arabia |
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| Abstract: | Primary ciliary dyskinesia (PCD) is an autosomal‐recessive disorder characterized by impaired ciliary function that leads to subsequent clinical phenotypes such as chronic sinopulmonary disease. PCD is also a genetically heterogeneous disorder with many single gene mutations leading to similar clinical phenotypes. Here, we present a novel PCD causal gene, coiled‐coil domain containing 151 (CCDC151), which has been shown to be essential in motile cilia of many animals and other vertebrates but its effects in humans was not observed until currently. We observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.925G>T:p.[E309*]) in a clinically diagnosed PCD patient from a consanguineous family of Arabic ancestry. The variant was absent in 238 randomly selected individuals indicating that the variant is rare and likely not to be a founder mutation. Our finding also shows that given prior knowledge from model organisms, even a single whole‐exome sequence can be sufficient to discover a novel causal gene. |
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| Keywords: | primary ciliary dyskinesia CCDC151 respiratory cilia ciliopathy |
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