Identification of VEGFR3 gene mutation in a Chinese family with autosomal dominant primary congenital lymphoedema.
- Author:
Ji-qun SHENG
1
;
Feng ZENG
;
Chang LI
;
Jing-yu LIU
;
Qing WANG
;
Mu-gen LIU
Author Information
- Publication Type:Journal Article
- MeSH: Amino Acid Substitution; Asian Continental Ancestry Group; genetics; Cataract; genetics; Genetic Loci; Humans; Lod Score; Lymphedema; genetics; Microsatellite Repeats; genetics; Mutation; Point Mutation; Vascular Endothelial Growth Factor Receptor-3; genetics
- From: Chinese Journal of Medical Genetics 2010;27(4):371-375
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the disease-causing gene in a four-generation Chinese family with 9 members affected with primary congenital lymphoedema (PCL, also known as Milroy disease).
METHODSLinkage analysis was performed with a few microsatellite markers flanking the candidate genetic loci for PCL, including 3 known genes associated with autosomal dominant PCL. For mutation analysis, VEGFR3 gene was sequenced with DNA from the proband. Direct DNA sequencing of exon 25 of the VEGFR3 gene was performed in all family members.
RESULTSThe disease gene in the family was mapped to chromosome 5q35.3 with a maximum Lod score of 2.07. Direct DNA sequencing of VEGFR3 gene revealed a heterozygous C to T transition at nucleotide 3341, resulting in p.Pro1114Leu mutation. The p.Pro1114Leu mutation co-segregated with all affected individuals in the family.
CONCLUSIONThis study identified a C3341T (p.Pro1114Leu) mutation in the VEGFR3 gene in a Chinese family with PCL, provided evidence that VEGFR3 mutation can cause PCL in Chinese.
