title: Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
abstract: Loeys-Dietz syndrome (LDS) is an inherited disorder that is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism and a bifid uvula or cleft palate. The disease is caused by heterozygous mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2, respectively). However, studies of patients with LDS are limited in Korea. From June 2000 to December 2010, 13 patients (10 probands) diagnosed with LDS were enrolled. The multidisciplinary data of the patients were reviewed retrospectively. The frequency of each clinical manifestation in Korean patients with LDS was compared with Western populations as described in the report by Loeys et al. Twelve (92%) of the 13 LDS patients had arterial tortuosity, 9 (69%) patients had hypertelorism and 11 (85%) patients had bifid uvula or cleft palate. Mutations in either TGFBR1 or TGFBR2 were detected in nine probands (90%). Of the mutations, five novel mutations were detected; three in TGFBR2 and two in TGFBR1. Blue sclera and atrial septal defect were not observed in the Korean patients, and the frequency of blue sclera was significantly lower in our Korean population than previously-described Western population (0 vs 40%; P=0.005). Despite the restricted number of patients in our study, we identified five novel mutations in the TGFBR1 and TGFBR2 genes and, except for blue sclera, no differences in phenotype are apparent between Korean patients and Western patients.
authors: Department of Medicine, Cardiac and Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Jeong Hoon
authors: JH
authors: Yang
authors: Chang-Seok
authors: CS
authors: Ki
authors: Hyejin
authors: H
authors: Han
authors: Bong Gun
authors: BG
authors: Song
authors: Shin Yi
authors: SY
authors: Jang
authors: Tae-Young
authors: TY
authors: Chung
authors: Kiick
authors: K
authors: Sung
authors: Heung Jae
authors: HJ
authors: Lee
authors: Duk-Kyung
authors: DK
authors: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics; D005260:Female; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D056910:Republic of Korea / Q000453:epidemiology; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; C000625841:TGFBR1 protein, human