Abstract：
Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant genetic and clinical heterogeneity of these conditions. We report the outcome of the diagnostic odyssey of a child with obesity, renal, and retinal disease. Genome sequencing identified biallelic splice site variants in sodium channel and clathrin linker 1 (SCLT1), an emerging ciliopathy gene. We review the literature on all patients reported with biallelic SCLT1 variants highlighting a frequent clinical presentation that overlaps Bardet-Biedl and Senior-Loken syndromes. We also discuss current concepts in syndrome designation in light of these data.
摘要：
纤毛病代表了罕见的多系统疾病的主要类别。针对给定患者的特定诊断受到这些病症的显著遗传和临床异质性的挑战。我们报告了一个肥胖儿童的诊断冒险的结果，肾,和视网膜疾病。基因组测序鉴定了钠通道和网格蛋白接头1（SCLT1）中的双等位基因剪接位点变体，一种新兴的纤毛病基因.我们回顾了所有报告有双等位基因SCLT1变异的患者的文献，突出了与Bardet-Biedl和Senior-Loken综合征重叠的频繁临床表现。我们还根据这些数据讨论了综合症指定的当前概念。
