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Blood, Vol. 93 No. 7 (April 1), 1999:
pp. 2261-2266
ERGIC-53 Gene Structure and Mutation Analysis in 19 Combined Factors V and VIII Deficiency Families
William C. Nichols,
Valeri H. Terry,
Matthew A. Wheatley,
Angela Yang,
Ariella Zivelin,
Nicola Ciavarella,
Caterina Stefanile,
Tadashi Matsushita,
Hidehiko Saito,
Norma B. de Bosch,
Arlette Ruiz-Saez,
Argimiro Torres,
Arthur R. Thompson,
Donald I. Feinstein,
Gilbert C. White,
Claude Negrier,
Christine Vinciguerra,
Melih Aktan,
Randal
J. Kaufman,
David Ginsburg, and
Uri Seligsohn
From the Division of Human Genetics, Children's Hospital Medical
Center, Cincinnati, OH; Howard Hughes Medical Institute and Departments
of Medicine, Human Genetics, and Biological Chemistry, University of
Michigan, Ann Arbor, MI; Institute of Thrombosis and Haemostasis, The
Chaim Sheba Medical Center, Tel-Hashomer and Sackler Faculty of
Medicine, Tel Aviv, Israel; the Department of Blood Coagulation and
Hemophilia Centre, University Hospital, Policlinico, Bari, Italy; Aichi
Blood Disease Research Foundation and The First Department of Internal
Medicine, Nagoya University School of Medicine, Nagoya, Japan; Centro
Nacional de Hemofilia, Banco Municipal de Sangre, Caracas, Venezuela;
the Puget Sound Blood Center and Department of Medicine, University of
Washington, Seattle, WA; the Department of Medicine, University of
Southern California School of Medicine, Los Angeles, CA; the Department
of Medicine, University of North Carolina, Chapel Hill, NC; Edouard
Herriot University Hospital, Department of Hematology, Lyon, France;
and the Department of Internal Medicine, Istanbul School of Medicine,
Istanbul, Turkey.
Combined factors V and VIII deficiency is an autosomal recessive
bleeding disorder associated with plasma levels of coagulation factors
V and VIII approximately 5% to 30% of normal. The disease gene was
recently identified as the endoplasmic reticulum-Golgi intermediate
compartment protein ERGIC-53 by positional cloning, with the detection
of two founder mutations in 10 Jewish families. To identify mutations
in additional families, the structure of the ERGIC-53 gene was
determined by genomic polymerase chain reaction (PCR) and sequence
analysis of bacterial artificial chromosome clones containing the
ERGIC-53 gene. Nineteen additional families were analyzed by direct
sequence analysis of the entire coding region and the intron/exon
junctions. Seven novel mutations were identified in 10 families, with
one additional family found to harbor one of the two previously
described mutations. All of the identified mutations would be predicted
to result in complete absence of functional ERGIC-53 protein. In 8 of
19 families, no mutation was identified. Genotyping data indicate that
at least two of these families are not linked to the ERGIC-53 locus.
Taken together, these results suggest that a significant subset of
combined factors V and VIII deficiency is due to mutation in one or
more additional genes.
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