Abstract：
Skeletal ciliopathies constitute a subgroup of ciliopathies characterized by various skeletal anomalies arising from mutations in genes impacting cilia, ciliogenesis, intraflagellar transport process, or various signaling pathways. Short-rib thoracic dysplasias, previously known as Jeune asphyxiating thoracic dysplasia (ATD), stand out as the most prevalent and prototypical form of skeletal ciliopathies, often associated with semilethality. Recently, pathogenic variants in GRK2, a subfamily of mammalian G protein-coupled receptor kinases, have been identified as one of the underlying causes of Jeune ATD. In this study, we report a new patient with Jeune ATD, in whom exome sequencing revealed a novel homozygous GRK2 variant, and we review the clinical features and radiographic findings. In addition, our findings introduce Morgagni hernia and an organoaxial-type rotation anomaly of the stomach and midgut malrotation for the first time in the context of this recently characterized GRK2-related skeletal ciliopathy.
摘要：
骨骼纤毛病变构成纤毛病变的一个亚组，其特征是由影响纤毛的基因突变引起的各种骨骼异常。纤毛生成,滑内运输过程，或各种信号通路。短肋骨的胸部发育不良,以前称为Jeune窒息性胸廓发育不良（ATD），作为骨骼纤毛病最普遍和最典型的形式，通常与半道德有关。最近,GRK2是哺乳动物G蛋白偶联受体激酶亚家族的致病变异体，已被确定为JeuneATD的根本原因之一。在这项研究中,我们报告了一个JeuneATD的新病人,其中外显子组测序揭示了一个新的纯合GRK2变体，我们回顾了临床特征和影像学检查结果。此外,我们的研究结果首次介绍了Morgagni疝和胃和中肠旋转不良的有机轴型旋转异常，这是最近以GRK2相关的骨骼纤毛病为背景的。
