Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

  title={Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia},
  author={M. J. Rock and J. Prenen and V. Funari and Tara L Funari and B. Merriman and S. Nelson and R. Lachman and W. Wilcox and S. Reyno and R. Quadrelli and A. Vaglio and G. Owsianik and A. Janssens and T. Voets and S. Ikegawa and T. Nagai and D. Rimoin and B. Nilius and D. Cohn},
  journal={Nature Genetics},
  • M. J. Rock, J. Prenen, +16 authors D. Cohn
  • Published 2008
  • Medicine, Biology
  • Nature Genetics
  • The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1–12q24.2. Among the genes in the genetic interval, we selected TRPV4, which encodes a calcium permeable cation channel of the transient receptor potential (TRP) vanilloid family, as a candidate gene because of its cartilage-selective gene… CONTINUE READING
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