Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in <i>DNAAF11</i> Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan
We herein report a 46-year-old patient with primary ciliary dyskinesia (PCD) caused by a large deletion spanning exons 5-11 of DNAAF11 accompanied by a hemizygous nonsense variant. The PICADAR score was 14, which was based on the presence of heterotaxy, congenital heart disease, history of neonatal respiratory distress, history of neonatal intensive care unit admission, chronic sinusitis, and otitis media. In addition, the patient's nasal nitric oxide level was markedly low at 30.7 nL/min. These findings suggest that the clinical features of DNAAF11-related PCD are typical of PCD.
Authors
- Naoto Keicho (ORCID: https://orcid.org/0000-0001-8232-9448)
- Kozo Morimoto (ORCID: https://orcid.org/0000-0002-8239-9275)
- Akiko Miyabayashi
- Keiko Wakabayashi
- Hiroshi Nakahama
- Masashi Ito (ORCID: https://orcid.org/0000-0002-9498-6995)
- Minako Hijikata (ORCID: https://orcid.org/0000-0002-1642-6597)
Institutions
- Japan Anti Tuberculosis Association (JP)
- Fukujuji Hospital (JP)
- Toranomon Hospital (JP)
- Nagasaki University (JP)
Publication Details
- Journal
- Internal Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.2169/internalmedicine.6081-25
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Society for the Promotion of Science