LETTER TO JMG

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations

E Jakkula¹, J Lohiniva¹, A Capone², L Bonafe³, M Marti⁴, V Schuster⁵, A Giedion⁶, G Eich⁷, E Boltshauser², L Ala-Kokko⁸, A Superti-Furga³

¹ Collagen Research Unit, Biocentre and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Oulu, Finland
² Division of Paediatric Neurology, University Children’s Hospital, Zurich, Switzerland
³ Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
⁴ Paediatric Practice, Mollis, Switzerland
⁵ University Children’s Hospital, Leipzig, Germany
⁶ Division of Radiology, University Children’s Hospital, Zurich, Switzerland
⁷ Division of Paediatric Radiology, Kantonspital, Aarau, Switzerland
⁸ Center for Gene Therapy and Department of Medicine, Tulane University Health Sciences Center, New Orleans, Louisiana, USA

Correspondence to:
Correspondence to:
Professor A Superti-Furga
Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois, Rue du Bugnon 46, CH-1011 Lausanne, Switzerland; asuperti@chuv.unil.ch

Keywords: cartilage oligomeric matrix protein; collagen IX; multiple epiphyseal dysplasia

Abbreviations: CSGE, conformation sensitive gel electrophoresis; MED, multiple epiphyseal dysplasia; PSACH, pseudoachondroplasia

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

Multiple epiphyseal dysplasia (MED) is clinically and genetically a heterogeneous disorder that affects growth centres and results in delayed and irregular mineralisation of the ossification centres.^1,2 Recessively inherited MED (rMED; MIM 226900) accounts for a significant proportion of MED cases and is associated with mutations in the sulphate transporter gene, DTDST/SLC26A2.^3,4 More often, MED is inherited as a dominant trait. Thus far, five different genes have been implicated in dominantly inherited MED: the gene for cartilage oligomeric matrix protein, COMP (MIM 600310); the genes for the 1, 2, and 3 chains of collagen IX, COL9A1 (MIM 120165), COL9A2 (MIM 120260), and COL9A3 (MIM 120270); and the gene for matrilin-3, MATN3 (MIM 602109). Patients with the severe forms of MED have short stature and major disability because of joint pain and stiffness. In the milder forms, height can be normal and joint complaints minimal.

Mutations in COMP typically lead to the . . . [Full text of this article]

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• Merritt, T. M., Bick, R., Poindexter, B. J., Alcorn, J. L., Hecht, J. T. (2007). Unique Matrix Structure in the Rough Endoplasmic Reticulum Cisternae of Pseudoachondroplasia Chondrocytes. Am. J. Pathol. 170: 293-300 [Abstract] [Full Text]  

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Another family with multiple epiphyseal dysplasia harboring the R718W mutation in COMP

Shiro Ikegawa, et al.

J Med Genet, 25 Jun 2004 [Full text]