Abstract：
UNASSIGNED: Ciliopathies responsible for retinitis pigmentosa can also cause systemic manifestations. RPGR is a ciliary gene and pathogenic variants in RPGR cause a retinal ciliopathy, the commonest cause of X-linked recessive retinitis pigmentosa. The RPGR protein interacts with numerous other ciliary proteins present in the transition zone of both motile and sensory cilia, and may play an important role in regulating ciliary protein transport. There has been a growing, putative association of RPGR variants with systemic ciliopathies: mainly sino-respiratory infections and primary ciliary dyskinesia.
UNASSIGNED: Retrospective case series of patients with RPGR-RP presenting to Oxford Eye Hospital with systemic disease.
UNASSIGNED: We report three children with RPGR-related rod-cone dystrophy, all of whom have mutations in the N-terminus of RPGR. Two cases co-presented with confirmed diagnoses of primary ciliary dyskinesia and one case with multiple sino-respiratory symptoms strongly suggestive of primary ciliary dyskinesia. These and all previously reported RPGR co-pathologies relate to ciliopathies and have no other systemic associations.
UNASSIGNED: The link between RPGR variants and a systemic ciliopathy remains plausible, but currently unproven.
UNASSIGNED: Retrospective case series of patients with RPGR-RP presenting to Oxford Eye Hospital with systemic disease.
UNASSIGNED: We report three children with RPGR-related rod-cone dystrophy, all of whom have mutations in the N-terminus of RPGR. Two cases co-presented with confirmed diagnoses of primary ciliary dyskinesia and one case with multiple sino-respiratory symptoms strongly suggestive of primary ciliary dyskinesia. These and all previously reported RPGR co-pathologies relate to ciliopathies and have no other systemic associations.
UNASSIGNED: The link between RPGR variants and a systemic ciliopathy remains plausible, but currently unproven.
摘要：
未经证实：导致色素性视网膜炎的纤毛病也可引起全身表现。RPGR是一种纤毛基因，RPGR的致病变异体可引起视网膜纤毛病，X连锁隐性视网膜色素变性的最常见原因。RPGR蛋白与运动纤毛和感觉纤毛过渡区中存在的许多其他纤毛蛋白相互作用，并可能在调节纤毛蛋白的转运中起重要作用。有越来越多的人，RPGR变异与全身性纤毛病变的推定关联：主要是鼻窦-呼吸道感染和原发性纤毛运动障碍。
UNASSIGNED：回顾性病例系列RPGR-RP患者就诊于牛津眼科医院，患有全身性疾病。
未经评估：我们报告了三名患有RPGR相关的棒锥营养不良的儿童，所有这些人在RPGR的N端都有突变。2例同时诊断为原发性纤毛运动障碍，1例伴有多种呼吸道症状，强烈提示原发性纤毛运动障碍。这些和所有先前报道的RPGR共病与纤毛病变有关，没有其他系统关联。
未经证实：RPGR变种与系统性纤毛病变之间的联系仍然是合理的，但目前未经证实。
UNASSIGNED：回顾性病例系列RPGR-RP患者就诊于牛津眼科医院，患有全身性疾病。
未经评估：我们报告了三名患有RPGR相关的棒锥营养不良的儿童，所有这些人在RPGR的N端都有突变。2例同时诊断为原发性纤毛运动障碍，1例伴有多种呼吸道症状，强烈提示原发性纤毛运动障碍。这些和所有先前报道的RPGR共病与纤毛病变有关，没有其他系统关联。
未经证实：RPGR变种与系统性纤毛病变之间的联系仍然是合理的，但目前未经证实。
