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Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia
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 clini...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489323/ https://www.ncbi.nlm.nih.gov/pubmed/25224326 http://dx.doi.org/10.1002/humu.22698 |
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author | Alsaadi, Muslim M Erzurumluoglu, A Mesut Rodriguez, Santiago Guthrie, Philip A I Gaunt, Tom R Omar, Hager Z Mubarak, Mohammad Alharbi, Khalid K Al-Rikabi, Ammar C Day, Ian N M |
author_facet | Alsaadi, Muslim M Erzurumluoglu, A Mesut Rodriguez, Santiago Guthrie, Philip A I Gaunt, Tom R Omar, Hager Z Mubarak, Mohammad Alharbi, Khalid K Al-Rikabi, Ammar C Day, Ian N M |
author_sort | Alsaadi, Muslim M |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-4489323 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | John Wiley & Sons, Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-44893232015-07-07 Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia Alsaadi, Muslim M Erzurumluoglu, A Mesut Rodriguez, Santiago Guthrie, Philip A I Gaunt, Tom R Omar, Hager Z Mubarak, Mohammad Alharbi, Khalid K Al-Rikabi, Ammar C Day, Ian N M Hum Mutat Brief Reports 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. John Wiley & Sons, Ltd 2014-12 2014-09-16 /pmc/articles/PMC4489323/ /pubmed/25224326 http://dx.doi.org/10.1002/humu.22698 Text en © 2014 The Authors. **Human Mutation published by Wiley Periodicals, Inc. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Brief Reports Alsaadi, Muslim M Erzurumluoglu, A Mesut Rodriguez, Santiago Guthrie, Philip A I Gaunt, Tom R Omar, Hager Z Mubarak, Mohammad Alharbi, Khalid K Al-Rikabi, Ammar C Day, Ian N M Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia |
title | Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia |
title_full | Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia |
title_fullStr | Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia |
title_full_unstemmed | Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia |
title_short | Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia |
title_sort | nonsense mutation in coiled-coil domain containing 151 gene (ccdc151) causes primary ciliary dyskinesia |
topic | Brief Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489323/ https://www.ncbi.nlm.nih.gov/pubmed/25224326 http://dx.doi.org/10.1002/humu.22698 |
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