DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy


EMİRALİOĞLU N., Wallmeier J., Olbrich H., Omran H., Ozcelik U.

CLINICAL RESPIRATORY JOURNAL, vol.12, no.3, pp.1017-1020, 2018 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.1111/crj.12620
  • Journal Name: CLINICAL RESPIRATORY JOURNAL
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.1017-1020
  • Keywords: asphyxiating thoracic dystrophy, DYNC2H1, ciliopathy, Jeune, ASPHYXIATING THORACIC DYSTROPHY, RIB-POLYDACTYLY SYNDROME, INTRAFLAGELLAR TRANSPORT, PROTEIN

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.