A Rare Presentation of X-Linked Primary Ciliary Dyskinesia Due to Xq22.3 Deletion .

Authors

Li Yan, Yan Su, He Li

Published in

Neuro endocrinology letters. Volume 47. Issue 5. Pages 333-337. Aug 15, 2026. Epub Aug 15, 2026.

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by mutations affecting the structure or function of motile cilia, with more than 50 causative genes identified to date. PCD is predominantly inherited in an autosomal recessive manner; however, X-linked recessive inheritance is exceptionally rare.
We report a male pediatric patient with recurrent pulmonary infections, chronic sinusitis, and situs inversus. Genetic analysis identified an approximately 720.3 kb hemizygous deletion in the Xq22.3 region, consistent with a rare X-linked recessive form of PCD.
This case highlights the importance of genetic testing for identifying rare PCD variants, facilitating early diagnosis and informing clinical management to improve long‑term outcomes.

PMID:
42647558
Bibliographic data and abstract were imported from PubMed on 27 Aug 2026.

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