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KMID : 0191120090240040737
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Journal of Korean Medical Science
2009 Volume.24 No. 4 p.737 ~ p.740
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The First Korean Case of Camurati-Engelmann Disease (Progressive Diaphyseal Dysplasia) Confirmed by TGFB1 Gene Mutation Analysis
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Park Seo-Jin
Yoon Choon-Sik
Park Hui-Wan
Choi Jong-Rak
Chung Jong-Shin
Lee Kyung-A
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Abstract
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Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-β1 (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 in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient’s mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.
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KEYWORD
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Camurati-Engelmann Syndrome, Transforming Growth Factor β1 Gene, Skeletal Dysplasia, Mutation Analysis
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