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Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298131/ https://www.ncbi.nlm.nih.gov/pubmed/32490514 http://dx.doi.org/10.1042/BSR20192510 |
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author | Deng, Sheng Wu, Shan Xia, Hong Xiong, Wei Deng, Xiong Liao, Junxi Deng, Hao Yuan, Lamei |
author_facet | Deng, Sheng Wu, Shan Xia, Hong Xiong, Wei Deng, Xiong Liao, Junxi Deng, Hao Yuan, Lamei |
author_sort | Deng, Sheng |
collection | PubMed |
description | Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease. |
format | Online Article Text |
id | pubmed-7298131 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Portland Press Ltd. |
record_format | MEDLINE/PubMed |
spelling | pubmed-72981312020-06-19 Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome Deng, Sheng Wu, Shan Xia, Hong Xiong, Wei Deng, Xiong Liao, Junxi Deng, Hao Yuan, Lamei Biosci Rep Mutation Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is characterized by bronchiectasis, chronic sinusitis, male infertility and situs inversus. KS is a genetically heterogeneous disease that is inherited in an autosomal recessive form; however, X-linked inheritance has also been reported. As of this writing [late 2020], at least 34 loci, most of which have known genes, have been reported in the literature as associating with KS. In the present study, we identified a frame shift mutation, c.167delG (p.G56Dfs*26), in the coiled-coil domain containing 151 gene (CCDC151) responsible for KS in a Han-Chinese family. To our knowledge, this is the first report of a CCDC151 c.167delG mutation in the KS patient. These findings may expand the CCDC151 mutation spectrum of KS, and contribute to future genetic counseling and gene-targeted therapy for this disease. Portland Press Ltd. 2020-06-16 /pmc/articles/PMC7298131/ /pubmed/32490514 http://dx.doi.org/10.1042/BSR20192510 Text en © 2020 The Author(s). https://creativecommons.org/licenses/by/4.0/ This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY). |
spellingShingle | Mutation Deng, Sheng Wu, Shan Xia, Hong Xiong, Wei Deng, Xiong Liao, Junxi Deng, Hao Yuan, Lamei Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome |
title | Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome |
title_full | Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome |
title_fullStr | Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome |
title_full_unstemmed | Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome |
title_short | Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome |
title_sort | identification of a frame shift mutation in the ccdc151 gene in a han-chinese family with kartagener syndrome |
topic | Mutation |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298131/ https://www.ncbi.nlm.nih.gov/pubmed/32490514 http://dx.doi.org/10.1042/BSR20192510 |
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