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

Novel <i>SPEF2</i> 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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Bibliographic Details
Main Authors: Mayako Mori, Takashi Kido, Noriho Sakamoto, Mutsumi Ozasa, Kumiko Kido, Yasuko Noguchi, Takatomo Tokito, Daisuke Okuno, Hirokazu Yura, Atsuko Hara, Hiroshi Ishimoto, Takashi Suematsu, Yasushi Obase, Yoshimasa Tanaka, Koichi Izumikawa, Kazuhiko Takeuchi, Hiroshi Mukae
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Journal of Clinical Medicine
Subjects:
ciliary beat frequency
ciliary beat amplitude
high-speed video microscopy analysis
primary ciliary dyskinesia
<i>SPEF2</i>
Online Access:https://www.mdpi.com/2077-0383/12/1/317

Internet

https://www.mdpi.com/2077-0383/12/1/317

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