<italic>DYNC2H1</italic> mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.

Abstract: Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is included in a group of syndromic skeletal ciliopathies associated with mutations in genes encoding proteins involved in the formation or function of motile cilia. Herein, we report a 6‐mo‐old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; <italic>DYNC2H1</italic> mutation was detected via genetic analysis and ciliary dysfunction was noted via high‐speed video microscopy. [ABSTRACT FROM AUTHOR]