title: Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.
abstract: Marfan syndrome (MFS; MIM #154700) is a connective tissue disorder characterized by cardiovascular, skeletal, and ocular abnormalities. The fibrillin-1 gene (FBN1; MIM no. 134797) on chromosome 15 was revealed to be the cause of Marfan syndrome. To date over 137 types of FBN1 mutations have been reported. In this study, two novel mutations and a recurrent de-novo mutation were identified in patients with MFS by means of single-strand conformational polymorphism (SSCP) analysis. The two novel mutations are a 4-bp deletion at nucleotide 2820-2823 and a G-to-T transversion at nucleotide 1421 (C474F), located on exon 23 and exon 11, respectively. A previously reported mutation at the splicing donor site of intron 2 (IVS2 G + 1A), which is predicted to cause exon skipping, was identified in a sporadic patient with classical MFS.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Chikumi
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Ohta
authors.forename: E
authors.initials: E
authors.lastname: Nanba
authors.forename: K
authors.initials: K
authors.lastname: Nagata
authors.forename: H
authors.initials: H
authors.lastname: Ninomiya
authors.forename: K
authors.initials: K
authors.lastname: Narasaki
authors.forename: T
authors.initials: T
authors.lastname: Katoh
authors.forename: I
authors.initials: I
authors.lastname: Hisatome
authors.forename: K
authors.initials: K
authors.lastname: Ono
authors.forename: Y
authors.initials: Y
authors.lastname: Tanaka
authors.forename: H
authors.initials: H
authors.lastname: Kuroda
authors.forename: S
authors.initials: S
authors.lastname: Ohgi
mesh_terms: D019943:Amino Acid Substitution; D004247:DNA / Q000032:analysis / Q000097:blood; D004252:DNA Mutational Analysis; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012326:RNA Splicing; D017384:Sequence Deletion; D054392:Adipokines
chemical_list: D004247:DNA; D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines