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Wiley, Human Mutation: Variation, Informatics and Disease, 12(35), p. 1446-1448, 2014

DOI: 10.1002/humu.22698

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Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

Journal article published in 2014 by Muslim M. Alsaadi, A. Mesut Erzurumluoglu, A. Mesut Erzurumluoglu, Santiago Rodriguez, Philip A. I. Guthrie, Tom R. Gaunt ORCID, Hager Z. Omar, Mohammad Mubarak ORCID, Khalid K. Alharbi, Ammar C. Al-Rikabi, Ammar C. Al‐Rikabi, Ian N. M. Day
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder characterised by impaired ciliary function which leads to subsequent clinical phenotypes such as chronic sino-pulmonary 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 current. We observed a novel nonsense mutation in a homozygous state in the CCDC151 gene (NM_145045.4:c.924C > A: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 not 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.This article is protected by copyright. All rights reserved