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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genotype-phenotype correlation in combined deficiency of factor v and factor VIII
Blood, Volume 111, No. 12, Year 2008
Notification
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Description
Combined deficiency of factor V and factor VIII (F5F8D) is caused by mutations in one of 2 genes, either LMAN1 or MCFD2. Here we report the identification of mutations for 11 additional F5F8D families, including 4 novel mutations, 2 in MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutation identified here (D81Y) and 2 previously reported mutations (D89A and D122V) abolish MCFD2 binding to LMAN1. Measurement of platelet factor V (FV) levels in 7 F5F8D patients (4 with LMAN1 and 3 with MCFD2 mutations) demonstrated similar reductions to those observed for plasma FV. Combining the current data together with all previous published reports, we performed a genotype-phenotype analysis comparing patients with MCFD2 mutations with those with LMAN1 mutations. A previously unappreciated difference is observed between these 2 classes of patients in the distribution of plasma levels for FV and factor VIII (FVIII). Although there is considerable overlap, the mean levels of plasma FV and FVIII in patients with MCFD2 mutations are significantly lower than the corresponding levels in patients with LMAN1 mutations. No differences in distribution of factor levels are observed by sex. These data suggest that MCFD2 may play a primary role in the export of FV and FVIII from the ER, with the impact of LMAN1 mediated indirectly through its interaction with MCFD2. © 2008 by The American Society of Hematology.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2424156/bin/blood-2007-10-113951_index.html
https://efashare.b-cdn.net/share/pmc/articles/PMC2424156/bin/blood-2007-10-113951_FigureS1.jpg
https://efashare.b-cdn.net/share/pmc/articles/PMC2424156/bin/blood-2007-10-113951_FigureS2.jpg
Authors & Co-Authors
Zhang, Bin
United States, Cleveland
Cleveland Clinic Foundation
Spreafico, Marta
Italy, Milan
Università Degli Studi Di Milano
Zheng, Chunlei
United States, Cleveland
Cleveland Clinic Foundation
Yang, Angela
United States, Ann Arbor
University of Michigan, Ann Arbor
Platzer, Petra
United States, Cleveland
Cleveland Clinic Foundation
Callaghan, Michael U.
United States, Detroit
Wayne State University
Avci, Zekai
Turkey, Ankara
Başkent Üniversitesi
Özbek, Namik Yasar
Turkey, Ankara
Başkent Üniversitesi
Mahlangu, Johnny Ndoni
South Africa, Johannesburg
University of the Witwatersrand
Haw, Tabitha
South Africa, Johannesburg
University of the Witwatersrand
Kaufman, Randal J.
United States, Ann Arbor
University of Michigan Medical School
Kottke-Marchant, Kandice K.
United States, Cleveland
Cleveland Clinic Foundation
Tuddenham, Edward G.D.
United Kingdom, London
The Royal Free Hospital
Seligsohn, Uri
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Peyvandi, Flora A.
Italy, Milan
Università Degli Studi Di Milano
Ginsburg, David
United States, Ann Arbor
University of Michigan, Ann Arbor
Statistics
Citations: 70
Authors: 16
Affiliations: 9
Identifiers
Doi:
10.1182/blood-2007-10-113951
ISSN:
00064971
Research Areas
Cancer
Genetics And Genomics