title: Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.
abstract: Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue. EDS type IV (EDS IV), the vascular type of the disease, is characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations in the gene for type III procollagen (COL3A1). However, recent studies suggest that the causative mutation of EDS IV is not homogeneous. We report our experience with three patients presenting with clinical features of type IV EDS. A 48-yr-old woman presented with acute aortic dissection (patient 1) and 36-yr-old and 21-yr-old women presented with carotidcavernous fistula (patients 2 and 3, respectively). All three patients bruised easily. Two patients (patients 1 and 3) had thin transparent skin with visible veins. Genetic analysis of COL3A1 revealed a Gly732Val (c.2195G>T) mutation in patient 1 and a duplication of 15 base pairs (c.3221_3235dup) which resulted in an interposition of five amino acids (p.Gly1074_Pro1078dup) in patient 2. However, no mutations were observed in COL3A1 or transforming growth factor beta receptors 1 and 2 in patients 3, which might be either due to a deletion of single or multiple exons in the COL3A1 gene or due to a genetic heterogeneity. This is the first report of genetically confirmed cases of EDS IV in Korea.
authors.affiliation: Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Jeong Hoon
authors.initials: JH
authors.lastname: Yang
authors.forename: Seung Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Jee Ah
authors.initials: JA
authors.lastname: Kim
authors.forename: Sung Hae
authors.initials: SH
authors.lastname: Kim
authors.forename: Shin Yi
authors.initials: SY
authors.lastname: Jang
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Duk Kyung
authors.initials: DK
authors.lastname: Kim
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D024061:Collagen Type III / Q000235:genetics*; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007723:Korea; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D014057:Tomography, X-Ray Computed
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III