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, cilt.12, sa.3, ss.1017-1020, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 3
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1111/crj.12620
  • Dergi Adı: CLINICAL RESPIRATORY JOURNAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1017-1020
  • Anahtar Kelimeler: asphyxiating thoracic dystrophy, DYNC2H1, ciliopathy, Jeune, ASPHYXIATING THORACIC DYSTROPHY, RIB-POLYDACTYLY SYNDROME, INTRAFLAGELLAR TRANSPORT, PROTEIN
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.