Molecular basis of congenital afibrinogenaemia in a Dutch family.
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.
Remijn
Jasper A
JA
Thrombosis and Haemostasis Laboratory, Department of Haematology, University Medical Centre, Utrecht, The Netherlands. j.a.remijn@isala.nl
van Wijk
Richard
R
Nieuwenhuis
H Karel
HK
de Groot
Philip G
PG
van Solinge
Wouter W
WW
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
D018389:Codon, Nonsense