A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
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منابع مشابه
A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2
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 کاملA 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: 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 کاملThree Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family
Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia...
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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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2020
ISSN: 1471-2350
DOI: 10.1186/s12881-020-01052-8