Format

Send to

Choose Destination
See comment in PubMed Commons below
J Korean Med Sci. 2009 Aug;24(4):737-40. doi: 10.3346/jkms.2009.24.4.737. Epub 2009 Jul 30.

The first Korean case of Camurati-Engelmann disease (progressive diaphyseal dysplasia) confirmed by TGFB1 gene mutation analysis.

Author information

1
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

Abstract

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.

KEYWORDS:

Camurati-Engelmann Syndrome; Mutation Analysis; Skeletal Dysplasia; Transforming Growth Factor β1 Gene

PMID:
19654961
PMCID:
PMC2719210
DOI:
10.3346/jkms.2009.24.4.737
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Korean Academy of Medical Sciences Icon for PubMed Central
    Loading ...
    Support Center