title: Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.
abstract: Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. We identified 27 causal mutations in FBN1, obtaining a mutation yield of 67·5%. A significant difference in age at aortic surgery between mutation positive and negative patients was observed. Thus, we conclude that genetic testing is important to identify patients at higher risk for developing life-threatening cardiovascular complications.
authors.affiliation: Department of Clinical Pathology,Lviv National Medical University after Danylo Halytsky,Ukraine.
authors.forename: Rustam
authors.initials: R
authors.lastname: Zhurayev
authors.affiliation: Center of Medical Genetics,Faculty of Medicine and Health Sciences,University of Antwerp and Antwerp University Hospital,Antwerp,Belgium.
authors.forename: Dorien
authors.initials: D
authors.lastname: Proost
authors.affiliation: Department of Clinical Pathology,Lviv National Medical University after Danylo Halytsky,Ukraine.
authors.forename: Dmytro
authors.initials: D
authors.lastname: Zerbino
authors.affiliation: Department of Genetics and Biotechnology,Ivan Franko National University of Lviv,Ukraine.
authors.forename: Viktor
authors.initials: V
authors.lastname: Fedorenko
authors.affiliation: Center of Medical Genetics,Faculty of Medicine and Health Sciences,University of Antwerp and Antwerp University Hospital,Antwerp,Belgium.
authors.forename: Josephina A N
authors.initials: JA
authors.lastname: Meester
authors.affiliation: Center of Medical Genetics,Faculty of Medicine and Health Sciences,University of Antwerp and Antwerp University Hospital,Antwerp,Belgium.
authors.forename: Lut
authors.initials: L
authors.lastname: VAN Laer
authors.affiliation: Center of Medical Genetics,Faculty of Medicine and Health Sciences,University of Antwerp and Antwerp University Hospital,Antwerp,Belgium.
authors.forename: Bart L
authors.initials: BL
authors.lastname: Loeys
mesh_terms: D000328:Adult; D001600:Berberine Alkaloids; D015331:Cohort Studies; D005260:Female; D000071838:Fibrillin-1 / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D009154:Mutation / Q000235:genetics*; D010617:Phenanthridines; D055815:Young Adult; D054392:Adipokines
chemical_list: D001600:Berberine Alkaloids; D000071838:Fibrillin-1; D010617:Phenanthridines; C000605722:FBN1 protein, human; D054392:Adipokines; C060921:ukrain