A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII

Journal of Thrombosis and Haemostasis

Volumn 10, Issue 11, 2012, Pages 2407-2409

  Zhu, M ^a   Das, V ^a   Zheng, C ^a   Majumdar, S ^b   Zhang, B ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; GENOMIC DNA; LECTIN, MANNOSE BINDING 1 PROTEIN; MANNOSE BINDING PROTEIN; MULTIPLE COAGULATION FACTOR DEFICIENCY GENE 2; UNCLASSIFIED DRUG;

ANEMIA; ARTHROPLASTY; AVASCULAR NECROSIS; BLEEDING; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING TEST; CASE REPORT; CHILD; COMBINED DEFICIENCY OF FACTOR 5 AND FACTOR 8; COMPLEX FORMATION; DISEASE SEVERITY; DNA EXTRACTION; DONOR SITE; ENDOPLASMIC RETICULUM; EPISTAXIS; ERYTHROCYTE TRANSFUSION; EXON; FEMALE; GENE MUTATION; GOLGI COMPLEX; HEMOPHILIA A; HIP PAIN; HUMAN; INTRON; LETTER; MENORRHAGIA; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SYNONYMOUS MUTATION;

ARTHROPLASTY; BINDING SITES; BLOOD COAGULATION; BLOOD TRANSFUSION; CHILD; DNA MUTATIONAL ANALYSIS; FACTOR V DEFICIENCY; FEMALE; HEMOPHILIA A; HUMANS; MANNOSE-BINDING LECTINS; MEMBRANE PROTEINS; MUTATION; NECROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES;

EID: 84868142948     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12002     Document Type: Letter

References (16)

1. Spreafico M, Peyvandi F. Combined FV and FVIII deficiency. Haemophilia 2008; 14: 1201-8.
2. Zhang B. Recent developments in the understanding of the combined deficiency of FV and FVIII. Br J Haematol 2009; 145: 15-23.
3. Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combineddeficiency ofcoagulation factors V and VIII. Cell 1998; 93: 61-70.
4. Neerman-Arbez M, Johnson KM, Morris MA, Mcvey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EGD. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V factor VIII deficiency. Blood 1999; 93: 2253-60.
5. Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, De Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D et al. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. Blood 1999; 93: 2261-6.
6. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, Mcvey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EGD, Kaufman RJ, Ginsburg D. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 2003; 34: 220-5.
7. Zheng C, Liu HH, Zhou J, Zhang B. EF hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII. Blood 2010; 115: 1081-7.
8. Zheng C, Liu HH, Yuan S, Zhou J, Zhang B. Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII. Blood 2010; 116: 5698-6706.
9. Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kauman RJ, Nichols WC, Egd T, Ginsburg D. Combined deficiency of factor V and factor VIII is due to mutationsin either LMAN1 or MCFD2. Blood 2006; 107: 1903-7.
10. Zhang B, Kaufman RJ, Ginsburg D. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. J Biol Chem 2005; 280: 25881-6.
11. Roeckel N, Woerner SM, Kloor M, Yuan YP, Patsos G, Gromes R, Kopitz J, Gebert J. High frequency of LMAN1 abnormalities in colorectal tumors with microsatellite instability. Cancer Res 2009; 69: 292-9.
12. Baines AC, Zhang B. Receptor-mediated protein transport in the early secretory pathway. Trends Biochem Sci 2007; 32: 381-8.
13. Cartegni L, Chew SL, Krainer AR. Listening to silence andunderstanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 2002; 3: 285-98.
14. Zucker M, Rosenberg N, Peretz H, Green D, Bauduer F, Zivelin A, Seligsohn U. Point mutations regarded as missense mutations cause splicing defects in the factor XI gene. J Thromb Haemost 2011; 9: 1977-84.
15. Chamary JV, Parmley JL, Hurst LD. Hearing silence: non-neutral evolution at synonymous sites in mammals. Nat Rev Genet 2006; 7: 98-108.
16. Schweizer A, Fransen JAM, Bachi T, Ginsel L, Hauri HP. Identification, by a monoclonal-antibody, of a 53-Kd protein associated with a tubulo-vesicular compartment at the cis-side of the golgi-apparatus. J Cell Biol 1988; 107: 1643-53.