Article

Discovery and Functional analysis of a novel <i>ALPK1</i> variant in ROSAH syndrome

2024-09-15

Abstract excerpt

ROSAH syndrome is an autosomal dominant autoinflammatory disorder characterised by visual disturbance caused by pathogenic variation in the protein kinase ALPK1. Only two such variants have been reported to cause ROSAH syndrome to date: 66 out of 67 patients harbour the Thr237Met variant, while a single patient carries a Tyr254Cys variant. Here we identify a family in which ROSAH syndrome is caused by a Ser277Phe...

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Literature Corpus work: 03090830-f749-5962-a6de-39a2506d31f9
DOI: 10.1101/2024.09.13.612837

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