Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan

Masashi Ito; Kozo Morimoto; Mikio Saotome; Akiko Miyabayashi; Keiko Wakabayashi; Hiroyuki Yamada; Minako Hijikata; Naoto Keicho; Ken Ohta

doi:10.2169/internalmedicine.3263-23

Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan

Intern Med. 2024 Mar 4. doi: 10.2169/internalmedicine.3263-23. Online ahead of print.

Authors

Masashi Ito¹, Kozo Morimoto^{1

2

3}, Mikio Saotome¹, Akiko Miyabayashi⁴, Keiko Wakabayashi⁴, Hiroyuki Yamada⁵, Minako Hijikata⁴, Naoto Keicho⁶, Ken Ohta¹

Affiliations

¹ Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
² Division of Clinical Research, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
³ Department of Clinical Mycobacteriosis, Nagasaki University Graduate School of Biomedical Sciences, Japan.
⁴ Department of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
⁵ Department of Mycobacterium Reference and Research, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
⁶ The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.

PMID: 38432987
DOI: 10.2169/internalmedicine.3263-23

Abstract

We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene. Based on these results, the patient was diagnosed with PCD due to a biallelic DNAAF1 mutation.

Keywords: DNAAF1; bronchiectasis; primary ciliary dyskinesia.