DYNC2H1 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; DYNC2H1 mutation was detected via genetic analysis and ciliary dysfunction was noted via high-speed video microscopy.

Keywords: DYNC2H1; Jeune; asphyxiating thoracic dystrophy; ciliopathy.