Molecular abnormality observed in a patient with coagulation factor X (FX) deficiency: a novel three-base-pair (CTT) deletion within the polypyrimidine tract of the FX intron D.
We investigated the molecular defect underlying congenital factor X (FX) deficiency in a Japanese patient. A novel three-base-pair deletion was identified within intron D of the FX gene. An allele-specific restriction analysis showed the propositus was homozygous and her two daughters were heterozygous for the deletion. It was not detected in 53 unrelated Japanese (106 alleles), indicating a probable cause of the FX deficiency. The deletion resides within a polypyrimidine tract of the acceptor splicing site where U2 snRNP binds to form spliceosomes. The defect could alter the formation of spliceosomes, resulting in incorrect splicing and decreased FX production.
Hayashi
T
T
Third Department of Internal Medicine, Yamagata University School of Medicine, Japan.
Yahagi
A
A
Suzuki
K
K
Sato
S
S
Sasaki
H
H
D000818:Animals; D001483:Base Sequence; D015153:Blotting, Western; D005171:Factor X Deficiency / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D017381:Spliceosomes / Q000235:genetics