RESUMEN
Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into genetically different forms according to the mode of inheritance and the gene involved. We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. A pedigree analysis of 3 generations with 6 affected persons revealed an X-linked recessive mode of inheritance. Mutation analysis of the TRAPPC2 (previously called SEDL) gene, the only gene associated with X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT; MIM 313400), was performed, and a splice-donor site mutation in intron 3 of the TRAPPC2 gene (c.93+5G>A) was identified in the proband and in his unaffected mother (a heterozygote). This mutation is one of the 2 most frequent mutations reported in the medical literature, and is known to result in exon 3 skipping. This is the first report of a genetically confirmed X-linked SEDT case in Korea and highlights the importance of recognizing the mode of inheritance in the diagnosis of X-linked SEDT.
Asunto(s)
Adolescente , Humanos , Masculino , Pueblo Asiatico/genética , Análisis Mutacional de ADN , Exones , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Proteínas de Transporte de Membrana/genética , Osteocondrodisplasias/genética , Linaje , República de Corea , Factores de Transcripción/genéticaRESUMEN
Objective:To investigate the expressions of SEDL(X-linked spondyloepiphyseal dysplasiatarda,SEDL)gene and its encoded protein sedlin in a variety of tissues in mice.Methods:Real-Time PCR and Western Blot were used to detect the expression levels of the SEDL mRNA and sedlin protein in 9 tissues in mice,respectively.And the expression levels of them in bone tissues in mice of 1,2 and 4-week-old were also measured in the same way.Results:①Expressions of SEDL gene and its corresponding sedlin protein were existed in 9 tissues detected in mice.The relative expression levels of SEDL mRNA and sedlin protein in tissues in mice were significantly different (P