Molecular characterization of two novel VEGFR3 mutations in Japanese families with Milroy's disease

Pediatrics International

Volumn 50, Issue 1, 2008, Pages 116-118

  Futatani, Takeshi ^a   Nii, Eiji ^b   Obata, Makoto ^c   Ichida, Fukiko ^a   Okabe, Yoshie ^a   Kanegane, Hirokazu ^a   Miyawaki, Toshio ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

^b Department of Physical Therapy   (Japan)

^c National Hospital Organization Mie Chuo Medical Center   (Japan)

Author keywords

Hereditary lymphedema; Milroy's disease; Splice site mutation; VEGFR3

Indexed keywords

ALANINE; COMPLEMENTARY DNA; FOCAL ADHESION KINASE 1; NUCLEOTIDE; PROTEIN TYROSINE KINASE; PROTEIN TYROSINE KINASE 1; UNCLASSIFIED DRUG; VASCULOTROPIN RECEPTOR 3;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; EDEMA; FAMILY STUDY; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; INFANT; JAPANESE; MALE; MILROY DISEASE; MISSENSE MUTATION; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; VEGFR3 GENE;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA, COMPLEMENTARY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; LYMPHEDEMA; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

EID: 39049109705     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2007.02505.x     Document Type: Article

References (9)

1. Karkkainen MJ, Ferrell RE., Lawrence EC et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat. Genet. 2000 25 : 153 9.
2. Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am. J. Hum. Genet. 2000 67 : 295 301.
3. Evans AL, Bell R, Brice G et al. Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J. Med. Genet. 2003 40 : 697 703.
4. Pajusola K, Aprelikova O, Korhonen J et al. FLT4 receptor tyrosine kinase contains seven immunoglobulin-like loops and is expressed in multiple human tissues and cell lines. Cancer Res. 1992 52 : 5738 43.
5. Finnerty H, Kelleher K, Morris GE et al. Molecular cloning of murine FLT and FLT4. Oncogene 1993 8 : 2293 8.
6. Galland F, Karamysheva A, Mattei MG, Rosnet O, Marchetto S, Birnbaum D. Chromosomal localization of FLT4, a novel receptor-type tyrosine kinase gene. Genomics 1992 13 : 475 8.
7. Karkkainen MJ, Petrova TV. Vascular endothelial growth factor receptors in the regulation of angiogenesis and lymphangiogenesis. Oncogene 2000 19 : 5598 605.
8. Tanaka K, Yamaguchi S, Sawano A, Shibuya M. Characterization of the extracellular domain in vascular endothelial growth factor receptor-1 (Flt-1 tyrosine kinase). Jpn. J. Cancer Res. 1997 88 : 867 76.
9. Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE. Nonsense-mediated decay approaches the clinic. Nat. Genet. 2004 36 : 801 8.