Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations

Gen Nishimura, Jin Dai, Ekkehart Lausch, Sheila Unger, André Megarbané, Hiroshi Kitoh, Ok Hwa Kim, Tae Joon Cho, Francesca Bedeschi, Francesco Benedicenti, Roberto Mendoza-Londono, Margherita Silengo, Maren Schmidt-Rimpler, Jurgen Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti-Furga

Research output: Contribution to journalArticlepeer-review


Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This family comprises, in order of increasing severity, dominant brachyolmia, spondylo-metaphyseal dysplasia Kozlowski type, and metatropic dysplasia.Wetested the hypothesis that a further condition, Spondylo-epiphyseal dysplasia (SED), Maroteaux type (MIM 184095; also known as pseudo-Morquio syndrome type 2), could be caused by TRPV4 mutations. We analyzed six individuals with Maroteaux type SED, including three who had previously been reported. All six patients were found to have heterozygous TRPV4 mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia. In addition, we tested one individual with a distinct rare disorder, parastremmatic dysplasia (MIM 168400). This patient had a common, recurrent mutation seen in several patients with Kozlowski type spondylo-metaphyseal dysplasia. We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical radiographic phenotypes.

Original languageEnglish
Pages (from-to)1443-1449
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
Publication statusPublished - Jun 2010


  • Dominant inheritance
  • Morquio
  • Skeletal dysplasia
  • Spondylo-epiphyseal dysplasia
  • TRPV4

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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