title: Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations.
abstract: We report about 52 pediatric patients of 40 different families with confirmed Marfan syndrome (MFS) in 49 patients and Loeys-Dietz syndrome (LDS) in 3 patients. We found 39 different mutations, 15 of them being novel. Phenotype-genotype correlation in the 49 MFS patients showed that the majority of patients carrying mutations in exons 1-21 had ectopic lens (80%). Patients having mutations in exons 23-32 had a higher probability of aortic root dilation, in 50% even above a z score of 3. We found three children with neonatal MFS form, two of them with novel mutations. Of the three LDS patients, only one presented with the typical phenotype of LDS type 1.
authors.affiliation: Pediatric Marfan Syndrome Outpatient Clinic, Medical University Vienna, Vienna, Austria; Department of Pediatric Cardiology, Pediatric Heart Center Vienna, University Children's Hospital, Vienna, Austria.
authors.forename: C
authors.initials: C
authors.lastname: Pees
authors.forename: I
authors.initials: I
authors.lastname: Michel-Behnke
authors.forename: M
authors.initials: M
authors.lastname: Hagl
authors.forename: F
authors.initials: F
authors.lastname: Laccone
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007223:Infant; D055947:Loeys-Dietz Syndrome / Q000209:etiology / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000209:etiology / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; 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; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines
keywords: FBN1; Loeys-Dietz syndrome; Marfan syndrome; TGFBR; genotype; phenotype