title: 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.
authors.affiliation: Department of Pediatric Pulmonology, Hacettepe University School of Medicine, Ankara, Turkey.
authors.forename: Nagehan
authors.identifier: http://orcid.org/0000-0002-1405-8401
authors.initials: N
authors.lastname: Emiralioglu
authors.affiliation: Department of Pediatrics, University Hospital Muenster, Muenster, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Wallmeier
authors.affiliation: Department of Pediatrics, University Hospital Muenster, Muenster, Germany.
authors.forename: Heike
authors.initials: H
authors.lastname: Olbrich
authors.affiliation: Department of Pediatrics, University Hospital Muenster, Muenster, Germany.
authors.forename: Heymut
authors.initials: H
authors.lastname: Omran
authors.affiliation: Department of Pediatric Pulmonology, Hacettepe University School of Medicine, Ankara, Turkey.
authors.forename: Ugur
authors.initials: U
authors.lastname: Ozcelik
mesh_terms: D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders; D056445:Cytoplasmic Dyneins / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004613:Ellis-Van Creveld Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission; D009154:Mutation; D013902:Radiography, Thoracic; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000150:complications* / Q000175:diagnosis; D014057:Tomography, X-Ray Computed
chemical_list: C099883:DYNC2H1 protein, human; D004247:DNA; D056445:Cytoplasmic Dyneins
keywords: DYNC2H1; Jeune; asphyxiating thoracic dystrophy; ciliopathy