Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
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چکیده
منابع مشابه
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive osteochondrodysplasia characterized by disproportionately short stature and degenerative joint disease. The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree. The clinical features of all affected individuals and female carriers were presen...
متن کاملX-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.
The syndrome of short stature inherited as an X-linked recessive trait was first reported by Jacobsen (1939) who described one family under the title 'hereditary osteochondrodystrophia deformans'. Three more pedigrees were studied by Maroteaux, Lamy, and Bernard (1957), who proposed the name dysplasia spondyloepiphysaire tardive, or spondyloepiphyseal dysplasia tarda (SDT). These authors also d...
متن کاملBiochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
SEDT (spondyloepiphyseal dysplasia tarda) is a late-onset X-linked recessive skeletal dysplasia caused by mutations in the gene SEDL coding for sedlin. In the present paper, we investigated four missense mutations observed in SEDT and compare biochemical and cellular characteristics relative to the wild-type protein to address the mechanism of disease and to gain insight into the function of th...
متن کاملX-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
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...
متن کاملMutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteoarthritis of the hips. The disorder affects males only with heterozygous female carriers showing no consistent abnormalities. The gene causing SEDT, which is ...
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ژورنال
عنوان ژورنال: International Journal of Endocrinology
سال: 2018
ISSN: 1687-8337,1687-8345
DOI: 10.1155/2018/8263136