A Five-Base Pair Deletion in the Sedlin Gene Causes Spondyloepiphyseal Dysplasia Tarda in a Six-Generation Arkansas Kindred*
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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 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 کاملCorneal changes in spondyloepiphyseal dysplasia tarda.
BACKGROUND A new type of corneal opacity with prominent corneal nerve fibers as an ocular complication of spondyloepiphyseal dysplasia tarda (SEDT). CASE A 58-year-old woman, diagnosed with SEDT at 5 years of age, underwent a complete ophthalmological examination. OBSERVATIONS The patient had no complaints and no history of eye disease. No relatives were reported to have suffered from SEDT....
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Masaki Takagi1, 2, Hiroko Yagi3, Yoshie Nakamura3, Hiroyuki Shinohara2, Ryojun Takeda2, Aya Shimada2, Gen Nishimura4, and Yukihiro Hasegawa2, 3 1 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2 Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Department of Genetic Research, Tokyo Metropolitan Children’s Medical...
متن کاملSpondyloepiphyseal dysplasia tarda with progressive arthropathy.
Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage. Here we present a nine-year-old girl from Middle Anatolia (Sivas) with SEDT-PA. Her complaints were pain and progressive deformity of the joints. She had a short stature with increased thoracic kyphosis and lumbar lordosis. The r...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2000
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.85.9.6840