title: Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.
abstract: Mutations in the genes encoding transforming growth factor-beta receptor types I and II (TGFBR1 and TGFBR2, respectively) are commonly identified in patients with Loeys-Dietz syndrome, as well as some patients with Marfan's syndrome or familial thoracic aortic aneurysms and dissections. This suggests that there is considerable phenotypic heterogeneity associated with mutations in these genes. Because bicuspid aortic valve (BAV) is a congenital heart defect in patients with Loeys-Dietz syndrome, this study was conducted to investigate whether variants in TGFBR1 or TGFBR2 are responsible for sporadic BAV. Analysis of these genes in 35 patients with BAVs identified only known single-nucleotide polymorphisms or novel synonymous or intronic substitutions. In conclusion, mutations in TGFBR1 and TGFBR2 rarely cause sporadic BAV.
authors: Department of Pediatrics, Division of Cardiology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors: Cammon B
authors: CB
authors: Arrington
authors: C Todd
authors: CT
authors: Sower
authors: Naomi
authors: N
authors: Chuckwuk
authors: Jeff
authors: J
authors: Stevens
authors: Mark F
authors: MF
authors: Leppert
authors: Anji T
authors: AT
authors: Yetman
authors: Neil E
authors: NE
authors: Bowles
mesh_terms: D000293:Adolescent; D000328:Adult; D001013:Aorta, Thoracic; D001021:Aortic Valve / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004108:Dilatation, Pathologic / Q000209:etiology; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011379:Prognosis; 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*; D016212:Transforming Growth Factor beta
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D016212:Transforming Growth Factor beta; D004247:DNA; 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