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 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.
Park
Seo-Jin
SJ
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Yoon
Choon Sik
CS
Park
Hui-Wan
HW
Choi
Jong Rak
JR
Chung
Jong Shin
JS
Lee
Kyung-A
KA
D000328:Adult; D019943:Amino Acid Substitution; D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D018483:Diaphyses / Q000000981:diagnostic imaging; D006579:Heterozygote; D006801:Humans; D007723:Korea; D008297:Male; D018908:Muscle Weakness / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
D053773:Transforming Growth Factor beta1