title: Molecular basis of congenital afibrinogenaemia in a Dutch family.
abstract: Congenital afibrinogenaemia is a rare autosomal recessive disorder characterized by complete absence or trace amounts of fibrinogen. Here we report the identification of the molecular defect underlying afibrinogenaemia in a Dutch patient. DNA sequence analysis of the fibrinogen Aalpha, Bbeta and gamma-genes revealed a homozygous deletion of two adenines between nucleotides 3120 and 3122 in exon 4 of the gene coding for the Aalpha-chain. This deletion results in a frameshift with a predicted premature end of translation at codon 140. This is the first report of a patient homozygous for this rare mutation associated with afibrinogenaemia.
authors.affiliation: Thrombosis and Haemostasis Laboratory, Department of Haematology, University Medical Centre, Utrecht, The Netherlands. j.a.remijn@isala.nl
authors.forename: Jasper A
authors.initials: JA
authors.lastname: Remijn
authors.forename: Richard
authors.initials: R
authors.lastname: van Wijk
authors.forename: H Karel
authors.initials: HK
authors.lastname: Nieuwenhuis
authors.forename: Philip G
authors.initials: PG
authors.lastname: de Groot
authors.forename: Wouter W
authors.initials: WW
authors.lastname: van Solinge
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000151:congenital / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D008297:Male; D009426:Netherlands; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense