Neuro endocrinology letters · 2026
A Rare Presentation of X-Linked Primary Ciliary Dyskinesia Due to Xq22.3 Deletion .
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Yan Li, Su Yan, Li He
Аннотация
BACKGROUND: 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.
CASE PRESENTATION: 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.
CONCLUSION: 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.
CASE PRESENTATION: 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.
CONCLUSION: 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.