title: Omani-type spondyloepiphyseal dysplasia  with cardiac involvement caused by  a missense mutation in CHST3.
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.
authors.affiliation: Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. beyhan@istanbul.edu.tr
authors.forename: B
authors.initials: B
authors.lastname: Tuysuz
authors.forename: S
authors.initials: S
authors.lastname: Mizumoto
authors.forename: K
authors.initials: K
authors.lastname: Sugahara
authors.forename: A
authors.initials: A
authors.lastname: Celebi
authors.forename: S
authors.initials: S
authors.lastname: Mundlos
authors.forename: S
authors.initials: S
authors.lastname: Turkmen