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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations
American Journal of Medical Genetics, Part A, Volume 152, No. 6, Year 2010
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Description
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. © 2010 Wiley-Liss, Inc.
Authors & Co-Authors
Nishimura, Gen
Japan, Fuchu
Tokyo Metropolitan Children's Medical Center
Dai, Jin
Japan, Wako
Riken
China, Nanjing
Medical School of Nanjing University
Lausch, Ekkehart U.
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Unger, Sheila L.
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Kitoh, Hiroshi
Japan, Nagoya
Nagoya University School of Medicine
Kim, Ok Hwa
South Korea, Suwon
Ajou University Hospital
Cho, Tae-joon
South Korea, Seoul
Seoul National University Children's Hospital
Bedeschi, Francesca
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Benedicenti, Francesco
Italy, Bolzano
Regional General Hospital
Mendoza-Londono, Roberto
Canada, Toronto
Hospital for Sick Children University of Toronto
Silengo, Margherita Cirillo
Italy, Turin
Università Degli Studi Di Torino
Schmidt-Rimpler, Maren
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Spranger, Juergen W.
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Zabel, Bernhard Ulrich
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Ikegawa, Shiro
Japan, Wako
Riken
Superti-Furga, Andrea
Germany, Freiburg Im Breisgau
Universitätsklinikum Freiburg
Statistics
Citations: 74
Authors: 17
Affiliations: 12
Identifiers
Doi:
10.1002/ajmg.a.33414
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy