LETTER TO JMG

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

D Ballhausen¹, L Bonafé¹, P Terhal², S L Unger³, G Bellus⁴, M Classen⁵, B C Hamel⁶, J Spranger⁷, B Zabel⁸, D H Cohn³, W G Cole⁹, J T Hecht¹⁰, A Superti-Furga¹

¹ Division of Metabolism and Molecular Paediatrics, University Children’s Hospital, Zürich, Switzerland
² Department of Medical Genetics, Wilhelmina Children’s Hospital, Utrecht, The Netherlands
³ Ahmanson Department of Pediatrics, Burns and Allen Cedars Sinai Research Institute, and Departments of Human Genetics and Pediatrics, UCLA School of Medicine, Los Angeles, USA
⁴ Department of Dermatology, University of Colorado Health Sciences Center, Denver, Colorado, USA
⁵ Zentralkrankenhaus Links der Weser, Bremen, Germany
⁶ Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
⁷ Greenwood Genetic Center, Greenwood, South Carolina, USA
⁸ Kinderklinik, Johannes Gutenberg Universität, Mainz, Germany
⁹ Division of Orthopaedic Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada
¹⁰ Departments of Pediatrics and Medical Genetics, University of Texas Medical School, Houston, Texas, USA

Correspondence to:
Correspondence to:
Professor A Superti-Furga, Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois, CH-1011 Lausanne, Switzerland;
asuperti@chuv.unil.ch

Keywords: multiple epiphyseal dysplasia; DTDST; club foot; sulphate transporter

The first 150 words of the full text of this article appear below.

Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. In the past, the disorder was subdivided into the milder Ribbing type, usually with flattened epiphyses,¹ and the more severe Fairbank type with round epiphyses,² but many cases were not classifiable as clearly either type.³ MED can be caused by mutations in at least six separate genes: COMP,^4–7 collagen IX (COL9A1, COL9A2, and COL9A3),^8–13 matrilin 3 (MATN3),¹⁵ and the sulphate transporter, DTDST (DTDST/SLC26A2). We have previously reported an adult with a recessively inherited form of MED (rMED) characterised by club feet, double layered patellae, and normal stature, who was homozygous for the mutation 862c>t/R279W in the DTDST gene, previously associated with the achondrogenesis 1B-atelosteogenesis 2-diastrophic dysplasia spectrum. . . . [Full text of this article]

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