Identification of a Novel VEGFR-3 Missense Mutation in a Chinese Family with Hereditary Lymphedema Type I

Journal of Genetics and Genomics

Volumn 34, Issue 10, 2007, Pages 861-867

  Yu, Zhengya ^a   Wang, Jingjing ^a   Peng, Shuling ^a   Dong, Bing ^a   Li, Yang ^a  

^a CAPITAL MEDICAL UNIVERSITY   (China)

Author keywords

autosomal dominant; hereditary lymphedema; missense mutation; vascular endothelial growth factor receptor gene (VEGFR 3)

Indexed keywords

VASCULOTROPIN RECEPTOR 3;

ADULT; ARTICLE; CHINESE; CHROMOSOME 5Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; GENETIC LINKAGE; GENOTYPE; HUMAN; INFANT; MALE; MILROY DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; LYMPHEDEMA; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

EID: 35248848027     PISSN: 16738527     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1673-8527(07)60097-6     Document Type: Article

References (20)

1. Brice G., Child A., Evans A., Bell R., Mansour S., Burnand K., Sarfarazi M., Jeffery S., and Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet 42 2 (2005) 98-102
2. Dale R. The inheritance of primary lymphoedema. J Med Genet 22 4 (1985) 274-278
3. Gregl A., von Heyden D., Jentsch F., and Yu D. [Primary lymphedema]. Z Lymphol 7 1 (1983) 21-28
4. Evans A., Brice G., Sotirova V., Mortimer P., Beninson J., Burnand K., Rosbotham J., Child A., and Sarfarazi M. Mapping of primary congenital lymphedema to the 5q35.3 region. Am J Hum Genet 64 2 (1999) 547-555
5. Ferrell R., Levinson K., Esman J., Kimak M., Lawrence E., Barmada M., and Finegold D. Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Hum Mol Genet 7 13 (1998) 2073-2078
6. Irrthum A., Karkkainen M., Devriendt K., Alitalo K., and Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 67 2 (2000) 295-301
7. Karkkainen M., Ferrell R., Lawrence E., Kimak M., Levinson K., McTigue M., Alitalo K., and Finegold D. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet 25 2 (2000) 153-159
8. Kaipainen A., Korhonen J., Mustonen T., van Hinsbergh V., Fang G., Dumont D., Breitman M., and Alitalo K. Expression of the fms-like tyrosine kinase 4 gene becomes restricted to lymphatic endothelium during development. Proc Natl Acad Sci USA 92 8 (1995) 3566-3570
9. Dumont D., Jussila L., Taipale J., Lymboussaki A., Mustonen T., Pajusola K., Breitman M., and Alitalo K. Cardiovascular failure in mouse embryos deficient in VEGF receptor-3. Science 282 5390 (1998) 946-949
10. Evans A., Bell R., Brice G., Comeglio P., Lipede C., Jeffery S., Mortimer P., Sarfarazi M., and Child A. Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J Med Genet 40 9 (2003) 697-703
11. Ghalamkarpour A., Morlot S., Raas-Rothschild A., Utkus A., Mulliken J., Boon L., and Vikkula M. Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. Clin Genet 70 4 (2006) 330-335
12. Spiegel R., Ghalamkarpour A., Daniel-Spiegel E., Vikkula M., and Shalev A. Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. J Hum Genet 51 10 (2006) 846-850
13. Wang Q., Shen J., Splawski I., Atkinson D., Li Z., Robinson J., Moss A., Towbin J., and Keating M. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 5 (1995) 805-811
14. Wang Q., Curran M., Splawski I., Burn T., Millholland J., VanRaay T., Shen J., Timothy K., Vincent G., de Jager T., Schwartz P., Toubin J., Moss A., Atkinson D., Landes G., Connors T., and Keating M. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 12 1 (1996) 17-23
15. Aprelikova O., Pajusola K., Partanen J., Armstrong E., Alitalo R., Bailey S., McMahon J., Wasmuth J., Huebner K., and Alitalo K. FLT4, a novel class III receptor tyrosine kinase in chromosome 5q33-qter. Cancer Res 52 3 (1992) 746-748
16. Galland F., Karamysheva A., Mattei M., Rosnet O., Marchetto S., and Birnbaum D. Chromosomal localization of FLT4, a novel receptor-type tyrosine kinase gene. Genomics 13 2 (1992) 475-478
17. Iljin K., Karkkainen M., Lawrence E., Kimak M., Uutela M., Taipale J., Pajusola K., Alhonen L., Halmekyto M., Finegold D., Ferrell R., and Alitalo K. VEGFR3 gene structure, regulatory region, and sequence polymorphisms. FASEB J 15 6 (2001) 1028-1036
18. McTigue M., Wickersham J., Pinko C., Showalter R., Parast C., Tempczyk-Russell A., Gehring M., Mroczkowski B., Kan C., Villafranca J., and Appelt K. Crystal structure of the kinase domain of human vascular endothelial growth factor receptor 2: a key enzyme in angiogenesis. Structure 7 3 (1999) 319-330
19. Hubbard S. Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog. EMBO J 16 18 (1997) 5572-5581
20. Albert B., Johnson A., Lewis J., Raff M., Roberts K., and Walter P. Molecular Biology of the Cell. 4 ed. (2002), Garland Science, New York