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一种新的 moyamoya 病综合征，伴肾发育不良、氨基转移酶升高和皮肤疾病，与 RNF213 中的新生变异有关。

A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.

机构信息

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

出版信息

Am J Med Genet A. 2021 Jul;185(7):2168-2174. doi: 10.1002/ajmg.a.62215. Epub 2021 May 7.

DOI:10.1002/ajmg.a.62215
PMID:33960657
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8360119/
Abstract

Ring-finger protein 213 (RNF213) encodes a protein of unknown function believed to play a role in cellular metabolism and angiogenesis. Gene variants are associated with susceptibility to moyamoya disease. Here, we describe two children with moyamoya disease who also demonstrated kidney disease, elevated aminotransferases, and recurrent skin lesions found by exome sequencing to have de novo missense variants in RNF213. These cases highlight the ability of RNF213 to cause Mendelian moyamoya disease in addition to acting as a genetic susceptibility locus. The cases also suggest a new, multi-organ RNF213-spectrum disease characterized by liver, skin, and kidney pathology in addition to severe moyamoya disease caused by heterozygous, de novo C-terminal RNF213 missense variants.

摘要

环指蛋白 213（RNF213）编码一种未知功能的蛋白质，据信在细胞代谢和血管生成中发挥作用。基因变异与烟雾病的易感性有关。在这里，我们描述了两名患有烟雾病的儿童，他们还表现出肾脏疾病、氨基转移酶升高以及通过外显子组测序发现的复发性皮肤损伤，这些损伤发现 RNF213 中存在从头错义变异。这些病例突出了 RNF213 除了作为遗传易感性位点之外，还能够引起孟德尔烟雾病的能力。这些病例还提示了一种新的多器官 RNF213 谱疾病，其特征是肝脏、皮肤和肾脏病理学，以及由杂合的、从头的 C 末端 RNF213 错义变异引起的严重烟雾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20ad/8360119/730ba3390a87/AJMG-185-2168-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20ad/8360119/11f79a5559b4/AJMG-185-2168-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20ad/8360119/730ba3390a87/AJMG-185-2168-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20ad/8360119/11f79a5559b4/AJMG-185-2168-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20ad/8360119/730ba3390a87/AJMG-185-2168-g001.jpg

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J Child Neurol. 2021 Mar;36(4):272-280. doi: 10.1177/0883073820967160. Epub 2020 Nov 6.
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Mutations of are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.
欧洲中风组织（ESO）关于烟雾病血管病变的指南，得到了血管欧洲参考网络（VASCERN）的认可。
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