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Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review

Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of...

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Autores principales: Mori, Mayako, Kido, Takashi, Sakamoto, Noriho, Ozasa, Mutsumi, Kido, Kumiko, Noguchi, Yasuko, Tokito, Takatomo, Okuno, Daisuke, Yura, Hirokazu, Hara, Atsuko, Ishimoto, Hiroshi, Suematsu, Takashi, Obase, Yasushi, Tanaka, Yoshimasa, Izumikawa, Koichi, Takeuchi, Kazuhiko, Mukae, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821625/
https://www.ncbi.nlm.nih.gov/pubmed/36615117
http://dx.doi.org/10.3390/jcm12010317
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author Mori, Mayako
Kido, Takashi
Sakamoto, Noriho
Ozasa, Mutsumi
Kido, Kumiko
Noguchi, Yasuko
Tokito, Takatomo
Okuno, Daisuke
Yura, Hirokazu
Hara, Atsuko
Ishimoto, Hiroshi
Suematsu, Takashi
Obase, Yasushi
Tanaka, Yoshimasa
Izumikawa, Koichi
Takeuchi, Kazuhiko
Mukae, Hiroshi
author_facet Mori, Mayako
Kido, Takashi
Sakamoto, Noriho
Ozasa, Mutsumi
Kido, Kumiko
Noguchi, Yasuko
Tokito, Takatomo
Okuno, Daisuke
Yura, Hirokazu
Hara, Atsuko
Ishimoto, Hiroshi
Suematsu, Takashi
Obase, Yasushi
Tanaka, Yoshimasa
Izumikawa, Koichi
Takeuchi, Kazuhiko
Mukae, Hiroshi
author_sort Mori, Mayako
collection PubMed
description Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performed whole-exome analysis and identified novel biallelic variants of SPEF2 in the homozygous state (c.1860_1861insCT). We confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa using fluorescent immunostaining. Accordingly, she was diagnosed as having PCD with the SPEF2 variant. The present case suggests that the deterioration of cilia function is moderate, the number of respiratory cells with moving cilia might be reduced, and the respiratory condition could be severe in patients with PCD with the SPEF2 variant.
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spelling pubmed-98216252023-01-07 Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review Mori, Mayako Kido, Takashi Sakamoto, Noriho Ozasa, Mutsumi Kido, Kumiko Noguchi, Yasuko Tokito, Takatomo Okuno, Daisuke Yura, Hirokazu Hara, Atsuko Ishimoto, Hiroshi Suematsu, Takashi Obase, Yasushi Tanaka, Yoshimasa Izumikawa, Koichi Takeuchi, Kazuhiko Mukae, Hiroshi J Clin Med Case Report Primary ciliary dyskinesia (PCD) is a genetic and congenital disease associated with an abnormal ciliary ultrastructure and function and is estimated to affect 1 in 15,000–20,000 individuals. A PCD diagnosis can be achieved by genotyping. Here, we performed whole-exome analysis for the diagnosis of PCD and described the detailed clinical characteristics of the case. A 39-year-old Japanese woman with sinusitis and bronchiectasis without situs inversus had had upper and lower respiratory symptoms since childhood and had received long-term macrolide therapy without an accurate diagnosis. A moderate deterioration of cilia function was observed by high-speed video microscopy analysis; additionally, the number of cells with moving cilia was fewer than that in patients without PCD. Electron microscopy revealed no apparent structural abnormalities. We performed whole-exome analysis and identified novel biallelic variants of SPEF2 in the homozygous state (c.1860_1861insCT). We confirmed the absence of SPEF2 protein expression in the cilia of the nasal mucosa using fluorescent immunostaining. Accordingly, she was diagnosed as having PCD with the SPEF2 variant. The present case suggests that the deterioration of cilia function is moderate, the number of respiratory cells with moving cilia might be reduced, and the respiratory condition could be severe in patients with PCD with the SPEF2 variant. MDPI 2022-12-31 /pmc/articles/PMC9821625/ /pubmed/36615117 http://dx.doi.org/10.3390/jcm12010317 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Mori, Mayako
Kido, Takashi
Sakamoto, Noriho
Ozasa, Mutsumi
Kido, Kumiko
Noguchi, Yasuko
Tokito, Takatomo
Okuno, Daisuke
Yura, Hirokazu
Hara, Atsuko
Ishimoto, Hiroshi
Suematsu, Takashi
Obase, Yasushi
Tanaka, Yoshimasa
Izumikawa, Koichi
Takeuchi, Kazuhiko
Mukae, Hiroshi
Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
title Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
title_full Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
title_fullStr Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
title_full_unstemmed Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
title_short Novel SPEF2 Variant in a Japanese Patient with Primary Ciliary Dyskinesia: A Case Report and Literature Review
title_sort novel spef2 variant in a japanese patient with primary ciliary dyskinesia: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9821625/
https://www.ncbi.nlm.nih.gov/pubmed/36615117
http://dx.doi.org/10.3390/jcm12010317
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