title: Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
abstract: The proposita described here was a 24-year-old woman with an acrogeric form of the Ehlers-Danlos syndrome including a massive dissecting aortic aneurysm. She was found to have a single-base mutation that substituted glutamic acid for glycine at amino acid position 1021 in the triple-helical domain of the type III procollagen. It is the most carboxy-terminal single-base mutation characterized to date in the COL3A1 gene. Analysis of medium and cell layer proteins from proposita's cultured skin fibroblasts showed that the mutant protein was poorly secreted, migrated more slowly on a polyacrylamide gel, and was partially unstable at +25 degrees C to brief digestion with trypsin.
authors.affiliation: Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
authors.forename: P
authors.initials: P
authors.lastname: Narcisi
authors.forename: Y
authors.initials: Y
authors.lastname: Wu
authors.forename: G
authors.initials: G
authors.lastname: Tromp
authors.forename: J J
authors.initials: JJ
authors.lastname: Earley
authors.forename: A J
authors.initials: AJ
authors.lastname: Richards
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
authors.forename: H
authors.initials: H
authors.lastname: Kuivaniemi
mesh_terms: D000328:Adult; D000784:Aortic Dissection / Q000209:etiology; D017544:Aortic Aneurysm, Abdominal / Q000209:etiology; D001019:Aortic Rupture / Q000209:etiology; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005347:Fibroblasts; D005971:Glutamates / Q000235:genetics; D018698:Glutamic Acid; D005998:Glycine / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011347:Procollagen / Q000032:analysis / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D005971:Glutamates; D011347:Procollagen; D012333:RNA, Messenger; D018698:Glutamic Acid; D005998:Glycine