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Prepublished online as a Blood First Edition Paper on January 2, 2003; DOI 10.1182/blood-2002-10-3116.
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Blood, 1 May 2003, Vol. 101, No. 9, pp. 3492-3494
HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY
Brief report
Prenatal diagnosis for congenital afibrinogenemia caused by a
novel nonsense mutation in the FGB gene in a Palestinian
family
Marguerite Neerman-Arbez,
Dung Vu,
Bassam Abu-Libdeh,
Isabelle Bouchardy, and
Michael
A. Morris
From the Division of Medical Genetics, University
Medical School and University Hospital, Geneva; Division of Angiology
and Hemostasis, University Hospital, Geneva, Switzerland;
and the Department of Pediatrics and Genetics, Makassed Hospital,
Jerusalem, Israel.
Congenital afibrinogenemia is a rare autosomal recessive disorder
characterized by the complete absence of detectable fibrinogen. We
previously identified the first causative mutations for this disease,
homozygous deletions of approximately 11 kb of the fibrinogen alpha
chain gene (FGA). Subsequent analyses revealed that most afibrinogenemia alleles are truncating mutations of FGA,
although mutations in all 3 fibrinogen genes, FGG, FGA and
FGB have been identified. In this study, we performed the
first prenatal diagnosis for afibrinogenemia. The causative mutation in
a Palestinian family was a novel nonsense mutation in the
FGB gene, Trp467Stop (W467X). Expression of the
Trp467Stop mutant FGB cDNA in combination with wild-type
FGA and FGG cDNAs showed that fibrinogen
molecules containing the mutant beta chain are not secreted into
the media. The fetus was found to be heterozygous for the
Trp467Stop mutation by direct sequencing and by linkage analysis,
a result that was confirmed in the newborn by intermediate fibrinogen levels.
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