The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
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چکیده
منابع مشابه
The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain ...
متن کاملLocalisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13.
Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddli...
متن کاملAn ENU-induced p.C225S missense mutation in the mouse Tgfb1 gene does not cause Camurati-Engelmann disease-like skeletal phenotypes
Camurati-Engelmann disease (CED) is a rare sclerosing bone disorder in humans with autosomal dominant inheritance. Mutations in the gene (TGFB1) that encodes transforming growth factor-β1 (TGF-β1) are causative for CED. TGF-β1 signaling is enhanced by the CED-causing mutations. In this study, we performed Tgfb1 mutation screening in an ENU-mutagenized mouse genomic DNA library. We identified a ...
متن کامل[Camurati-Engelmann disease].
1Senior Registrar, Endocrinology, 2Consultant Endocrinologist, 3Consultant Radiologist, 4Senior Registrar, Orthopedic, 5Consultant Orthopedic Surgeon, 6Consultant Histo Pathologist, National Hospital of Sri Lanka. Figure 1. Xray skull – lateral. Figure 2. Histology of the bone biopsy shows mature thick cortical lamellar bone with regular prominent cement lines (thick arrow) with prominent osteo...
متن کاملAngioid streaks in a case of Camurati–Engelmann disease
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angi...
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ژورنال
عنوان ژورنال: Journal of Korean Medical Science
سال: 2009
ISSN: 1011-8934
DOI: 10.3346/jkms.2009.24.4.737