Preprint Case Report Version 1 This version is not peer-reviewed

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

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

How to cite: Thom, C.S.; Brandsma, E.; Lambert, M.P. Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report. Preprints 2020, 2020020252 (doi: 10.20944/preprints202002.0252.v1). Thom, C.S.; Brandsma, E.; Lambert, M.P. Thrombocytosis in an Infant with a TRPV4 Mutation: A Case Report. Preprints 2020, 2020020252 (doi: 10.20944/preprints202002.0252.v1).

Abstract

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.

Subject Areas

thrombocytosis; skeletal dysplasia; TRPV4; calcium channel

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our diversity statement.

Leave a public comment
Send a private comment to the author(s)
Views 0
Downloads 0
Comments 0
Metrics 0


×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.