Abstract
Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a calcium-permeable nonselective cation channel of unknown biological function. TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia and parastremmatic dysplasia. Recently, TRPV4 mutation has also been identified in a spectrum of neuromuscular diseases that includes congenital distal spinal muscular atrophy (SMA), scapuloperoneal SMA, and hereditary motor and sensory neuropathy type IIC. These diverse spectrums of diseases compose a novel channelopathy, TRPV4-pathy, which could further include polygenic traits such as serum sodium concentration and a chronic obstructive pulmonary disease. In this review, we clarified the TRPV4 mutation spectrum, and discussed the phenotypic complexity of TRPV4-pathy and its pathogenic mechanisms. TRPV4-pathy may extend further to other monogenic and polygenic diseases.
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Acknowledgements
This project is supported by Grants-in-aids from the Ministry of Education, Culture, Sports and Science of Japan (No. 21249024) from Research on Child Health and Development (No. 20-S-3), and from the Ministry of Health, Labor and Welfare of Japan (Measures for Intractable Diseases 046 in 2010).
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Dai, J., Cho, TJ., Unger, S. et al. TRPV4-pathy, a novel channelopathy affecting diverse systems. J Hum Genet 55, 400–402 (2010). https://doi.org/10.1038/jhg.2010.37
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DOI: https://doi.org/10.1038/jhg.2010.37
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