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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Nishimura, Gen Dai, Jin Lausch, Ekkehart Unger, Sheila Megarbané, André Kitoh, Hiroshi Kim, Ok Hwa Cho, Tae-Joon Bedeschi, Francesca Benedicenti, Francesco Mendoza-Londono, Roberto Silengo, Margherita Schmidt-Rimpler, Maren Spranger, Jurgen Zabel, Bernhard Ikegawa, Shiro Superti-Furga, Andrea
Description	Country affiliation: Japan Author Affiliation: Nishimura G ( Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Kiyose, Japan.)
Abstract	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. We tested 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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Mucopolysaccharidosis Ii Genetics Osteochondrodysplasias Trpv Cation Channels Adult Child Female Genetic Variation Humans Male Mutation Pedigree Radiography Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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