DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy
DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy
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DOI：
10.1111/crj.12620
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发表时间：
2018-03-01
影响因子：
1.7
通讯作者：
Ozcelik, Ugur
中科院分区：
文献类型：
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作者：
Emiralioglu, Nagehan;Wallmeier, Julia;Ozcelik, Ugur
窒息性胸廓营养不良，也称为 Jeune 综合征，属于一组与编码参与运动纤毛形成或功能的蛋白质的基因突变相关的综合征性骨骼纤毛病。在此，我们报道了一名 6 个月大的男性，因反复肺部感染、胸部营养不良和呼吸窘迫入院，被诊断为 Jeune 综合征；通过基因分析检测到 DYNC2H1 突变，并通过高速视频显微镜观察到纤毛功能障碍。
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.