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Type: Journal article
Title: Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Author: Ades, L.
Haan, E.
Colley, A.
Richards, R.
Citation: Journal of Medical Genetics, 1996; 33(8):665-671
Issue Date: 1996
ISSN: 0022-2593
Department: School of Molecular and Biomedical Science : Genetics
Abstract: Forty-four percent of the fibrillin-1 gene (FBN1) from 19 unrelated families with Marfan syndrome was screened for putative mutations by single strand conformational polymorphism (SSCP) analysis. Four novel mutations were identified and characterised in five people, three with classical Marfan syndrome (two from one family, and one from an unrelated family), one with a more severe phenotype, and one with neonatal Marfan syndrome. The base substitutions G2113A, G2132A, T3163G, and G3458A result in amino acid substitutions A705T, C711Y, C1055G, and C1152Y, respectively. C711Y, C1055G, and C1152Y lead to replacement of a cysteine by another amino acid; the latter two occur within epidermal growth factor-like motifs in exon 25 and 27, respectively. The A705T mutation occurs at exon 16 adjacent to the GT splice site. The A705T and C711Y mutations, at exon 16 and 17, respectively, are the first documented in the second transforming growth factor-beta 1 binding protein-like motif of FBN1.
Keywords: Humans; Marfan Syndrome; Microfilament Proteins; DNA Mutational Analysis; Point Mutation; Polymorphism, Single-Stranded Conformational; Genes; Exons; Molecular Sequence Data; Adult; Child; Child, Preschool; Infant, Newborn; Female; Male; Fibrillin-1; Fibrillins
RMID: 0030005512
DOI: 10.1136/jmg.33.8.665
Appears in Collections:Paediatrics publications

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