Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report

Christopher S. Thom; Erik Brandsma; Michele P. Lambert

doi:10.20944/preprints202002.0252.v1

Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Version 1 : Received: 15 February 2020 / Approved: 18 February 2020 / Online: 18 February 2020 (02:47:09 CET)

Mutations in the calcium channel gene Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. A recent report detailed murine thrombocytosis in the absence of functional TRPV4, but no prior reports have described platelet count abnormalities in the context of human TRPV4 disease. Here, we report a case of prolonged thrombocytosis in the context of TRPV4-associated metatropic dysplasia that was lethal in the infantile period.

thrombocytosis; skeletal dysplasia; TRPV4; calcium channel

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Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report

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