American Society of Hematology, Blood, 10(96), p. 3650-3652, 2000
DOI: 10.1182/blood.v96.10.3650.h8003650_3650_3652
American Society of Hematology, Blood, 10(96), p. 3650-3652, 2000
DOI: 10.1182/blood.v96.10.3650
Full text: Unavailable
AbstractA mutation in the γ-glutamyl carboxylase gene leading to a combined congenital deficiency of all vitamin K-dependent coagulation factors was identified in a Lebanese boy. He is the first offspring of consanguineous parents and was homozygous for a unique point mutation in exon 11, resulting in the conversion of a tryptophan codon (TGG) to a serine codon (TCG) at amino acid residue 501. Oral vitamin K1 administration resulted in resolution of the clinical symptoms. Screening of several family members on this mutation with an RFLP technique revealed 10 asymptomatic members who were heterozygous for the mutation, confirming the autosomal recessive pattern of inheritance of this disease. In 50 nonrelated normal subjects, the mutation was not found. This is the second time a missense mutation in the γ-glutamyl carboxylase gene is described that has serious impact on normal hemostasis.