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%; P0.005). 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. © 2012 The Japan Society of Human Genetics All rights reserved.