Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120. We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic conditions. We used an RNA in situ detection technique called RNAscope to characterise ARL3 and CEP120 expression patterns in human embryos and foetuses in collaboration with the MRC-Wellcome Trust Human Developmental Biology Resource. Both ARL3 and CEP120 are expressed in early human brain development, including the cerebellum and in the developing retina and kidney, consistent with the clinical phenotypes seen with pathogenic variants in these genes. This study provides insights into the potential pathogenesis of JSRD by uncovering the spatial expression of two JSRD-causative genes during normal human development.

中文翻译：

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纤毛病基因 ARL3 和 CEP120 的表达模式揭示了多系统发育中的作用

Joubert 综合征及相关疾病 (JSRD) 和 Jeune 综合征是具有重叠表型的多系统纤毛病。这些罕见综合征的遗传原因越来越多，包括最近描述的基因 ARL3 和 CEP120。我们试图探索人类 ARL3 和 CEP120 的发育表达模式，以进一步了解这些遗传条件。我们与 MRC-Wellcome Trust Human Developmental Biology Resource 合作，使用称为 RNAscope 的 RNA 原位检测技术来表征人类胚胎和胎儿中的 ARL3 和 CEP120 表达模式。ARL3 和 CEP120 在早期人类大脑发育中表达，包括小脑以及发育中的视网膜和肾脏，这与这些基因的致病变异所见的临床表型一致。