Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3 |
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| Authors: | B Tuysuz,S Mizumoto,K Sugahara,A Ç elebi,S Mundlos,and S Turkmen |
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| Affiliation: | Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey;, Laboratory of Proteoglycan Signaling and Therapeutics, Faculty of Advanced Life Science, Hokkaido University Graduate School of Life Science, Sapporo, Japan;, Department of Pediatric Cardiology, Siyami Ersek Hospital, Istanbul, Turkey;, Institut für Medizinische Genetik, CharitéUniversitätsmedizin Berlin, Berlin, Germany;, and Max Planck Institute for Molecular Genetics, Berlin, Germany |
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| Abstract: | We describe a family with progressive skeletal dysplasia and severe spinal involvement, short stature, premature arthrosis and joint contractures diagnosed as spondyloepiphyseal dysplasia Omani type. Mutation analysis in CHST3 , the gene encoding for the chondroitin 6- O -sulfotransferase-1 (C6ST-1), revealed a homozygous missense mutation (T141M) in exon 3 in all three affected members of the family. Using recombinant C6ST-1, we showed that the identified missense mutation results in a reduction of C6ST-1 activity to 24–29% of the wild type protein. In addition to the previously noted skeletal features, affected members of this family also had cardiac involvement including mitral, tricuspid and/or aortic regurgitations and type E brachydactyly. |
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| Keywords: | cardiac involvement chondroitin 6-O-sulfotransferase-1 CHST3 Omani type spondyloepiphyseal dysplasia |
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