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Article

Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.

Open biology - 1 Dec 2024

Snelling Tom, Garnotel Leo O, Jeru Isabelle, Tusseau Maud, Cuisset Laurence, Perlat Antoinette, Minard Geoffrey, Benquey Thibaut, Maucourant Yann, Wood Nicola T, Cohen Philip, Ziegler Alban

Abstract excerpt

Retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache (ROSAH) syndrome is an autosomal dominant disorder and to date is known to be caused by either the Thr237Met or Tyr254Cys variant in the protein kinase ALPK1. Here, we identify a family in which ROSAH syndrome is caused by a novel variant in which Ser277 is changed to Phe. All six patients examined display ocular inflammation...

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Source

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Identifiers

PMID: 39626775
DOI: 10.1098/rsob.240260
PMCID: PMC11614533

Genes

ALPK1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome.PMID 39626775Read ↗

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