title: Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome.
abstract: We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by phenylalanine (C504F), cysteine by tyrosine (C1129Y), tyrosine by cysteine (Y1261C), cysteine by serine (C1833S), and cysteine by tyrosine (C2142Y), respectively. The other four mutations are single base deletions in exons 39, 43, 48, and 58, at nucleotide A4826, C5311, T6018, and A7291, respectively, each resulting in frameshift with premature termination. Four mutations were detected in sporadic cases and are likely to be de novo.
authors.affiliation: Institute of Human Genetics, Hannover, Germany.
authors.forename: A A
authors.initials: AA
authors.lastname: El-Aleem
authors.forename: M
authors.initials: M
authors.lastname: Karck
authors.forename: A
authors.initials: A
authors.lastname: Haverich
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
authors.forename: M
authors.initials: M
authors.lastname: Arslan-Kirchner
mesh_terms: D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics; D004815:Epidermal Growth Factor / Q000235:genetics; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D016368:Frameshift Mutation; D005858:Germany; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D020125:Mutation, Missense; D054392:Adipokines
chemical_list: D002135:Calcium-Binding Proteins; D004815:Epidermal Growth Factor; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines