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Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
Tuysuz, B; Mizumoto, S; Sugahara, K; Celebi, A; Mundlos, S; Turkmen, S.
Afiliação
  • Tuysuz B; Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey. beyhan@istanbul.edu.tr
Clin Genet ; 75(4): 375-83, 2009 Apr.
Article em En | MEDLINE | ID: mdl-19320654
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Sulfotransferases / Mutação de Sentido Incorreto / Cardiopatias Congênitas Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2009 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Sulfotransferases / Mutação de Sentido Incorreto / Cardiopatias Congênitas Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2009 Tipo de documento: Article