Thrombocytosis in an infant with a TRPV4 mutation: a case report
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Christopher S Thom1, Erik Brandsma1, Michele P Lambert2
1Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Insights
Mutations in the TRPV4 gene can cause skeletal dysplasia. This study reports prolonged high platelet counts (thrombocytosis) in an infant with TRPV4-associated metatropic dysplasia, a finding not previously seen in human disease.
Area of Science:
- Genetics
- Hematology
- Skeletal Dysplasias
Background:
- Mutations in the Transient Receptor Potential cation channel subfamily V member 4 (TRPV4) gene are linked to autosomal dominant skeletal dysplasias.
- Previous research indicated TRPV4 activation enhances platelet formation in mice.
Observation:
- A case of metatropic dysplasia associated with TRPV4 mutations was observed.
- The patient presented with prolonged thrombocytosis (high platelet count).
Findings:
- This is the first report of platelet count abnormalities in human TRPV4 disease.
- The observed thrombocytosis was prolonged and occurred in the context of a lethal infantile metatropic dysplasia.
Implications:
- This finding expands the known phenotype of TRPV4-associated disorders.
- It suggests a potential role for TRPV4 in human platelet regulation.
- Further research is warranted to explore the link between TRPV4 and thrombocytosis.
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 enhanced proplatelet formation and increased murine platelet count in the context of TRPV4 activation. No prior reports have described platelet count abnormalities in 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.
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