title: Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.
abstract: We describe a new mutation in glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome (BSS). Sequencing of GPIX revealed a homozygous (T-->C) transition at nucleotide 1717 (GenBank/HUMGPIX/M80478), resulting in a Cys(8) (TGT)-->Arg (CGT) replacement in the mature peptide. DNA restriction enzyme analysis using BsaAI revealed that the patient was homozygous and that his parents were heterozygous for the defect. This mutation disrupts a putative disulphide bond between the Cys(8) and Cys(12) that would alter the secondary structure of GPIX and which probably accounts for the absence of the GPIb/IX/V complex from the platelet surface in this patient.
authors.affiliation: Hematology Service, Department of Laboratory Medicine, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA. cr86t@nih.gov
authors.forename: C E
authors.initials: CE
authors.lastname: Rivera
authors.forename: J
authors.initials: J
authors.lastname: Villagra
authors.forename: M
authors.initials: M
authors.lastname: Riordan
authors.forename: S
authors.initials: S
authors.lastname: Williams
authors.forename: K J
authors.initials: KJ
authors.lastname: Lindstrom
authors.forename: M E
authors.initials: ME
authors.lastname: Rick
mesh_terms: D001483:Base Sequence; D001606:Bernard-Soulier Syndrome / Q000235:genetics*; D001792:Blood Platelets / Q000378:metabolism*; D002675:Child, Preschool; D005434:Flow Cytometry; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex