Telangiectasia
Return to Library
|
Free Telangiectasia Articles |
|
|
|
|
New genetics & genomics research from University of Louvain outlined
2009 JUL 21 - (NewsRx.com) -- "Heterozygous mutations in VEGFR3 have been identified in some familial cases with dominantly inherited primary congenital lymphoedema, known as Nonne-Milroy disease. Recessive cases of primary lymphoedema with a genetic cause are not known, except for two families with syndromic hypotrichosis lymphoedema-telangiectasia, with a SOX18 mutation," scientists in Brussels, Belgium report. "In this study, we present the first case of isolated primary congenital lymphoedema with recessive inheritance, caused by a homozygous mutation in VEGFR3. The novel mutation is a transition from alanine-to-threonine in amino acid 855, located in the ATP binding domain of the VEGFR3 receptor. Assessment of receptor function showed impaired ligand induced internalisation and ERK1/2 activity. Moreover, receptor phosphorylation was reduced, although less so than for a kinase-dead VEGFR3 mutation, which causes Nonne Milroy disease. A hypomorphic VEGFR3 mutation, with moderate effect on receptor function, in a homozygous state can result in insufficient lymphatic functioning. Thus, in addition to Nonne-Milroy disease with dominant inheritance, VEGFR3 alterations can cause isolated recessive primary congenital lymphoedema," wrote A. Ghalamkarpour and colleagues, University of Louvain. The researchers concluded: "These data expand our understanding of the aetiology of congenital lymphoedema and suggest that large scale screening of VEGFR3 in all primary lymphoedema patients is necessary.." Ghalamkarpour and colleagues published their study in the Journal of Medical Genetics (Recessive primary congenital lymphoedema caused by a VEGFR3 mutation. Journal of Medical Genetics, 2009;46(6):399-404). For additional information, contact M. Vikkula, Catholic University of Louvain, Duve Institute, Laboratory Human Molecular Genetics, BCHM GEHU, Avenue Hippocrate 74 5, B-1200 Brussels, Belgium. The publisher's contact information for the Journal of Medical Genetics is: B M J Publishing Group, British Med Association House, Tavistock Square, London WC1H 9JR, England. Keywords: Belgium, Brussels, Genetics & Genomics, Dermatology, Genetics, Hypotrichosis, Lymphedema, Telangiectasia, University of Louvain. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2009, Life Science Weekly via NewsRx.com.
|
