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Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease
Author(s) -
XIE F.,
WANG X.,
COOPER D. N.,
LAN F.,
FANG Y.,
CAI X.,
WANG Z.,
WANG H.
Publication year - 2007
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2007.01514.x
Subject(s) - exon , frameshift mutation , von willebrand disease , transversion , genetics , compound heterozygosity , gene , von willebrand factor , stop codon , nonsense mediated decay , nonsense mutation , microbiology and biotechnology , medicine , mutation , biology , rna splicing , rna , platelet , missense mutation
Summary. A 23‐year‐old Chinese woman with severe von Willebrand factor (VWF) deficiency and her parents were investigated by PCR/direct sequencing of the VWF gene. The patient was found to be compound heterozygous for two novel null mutations. The first was a microinsertion in exon 8 (1203insG) that introduced a frameshift at codon 298 leading to premature translational termination at codon 302. The second was a C to A transversion in exon 28 which resulted in the replacement of tyrosine 562 by a stop codon (Y1456X). The failure to amplify VWF cDNA from the patient by semi‐nested PCR is consistent with the induction of nonsense‐mediated mRNA decay.