A GLYCINE-375-TO-CYSTEINE SUBSTITUTION IN THE TRANSMEMBRANE DOMAIN OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN A NEWBORN WITH ACHONDROPLASIA

被引：39

作者：

SUPERTIFURGA, A

EICH, G

BUCHER, HU

WISSER, J

GIEDION, A

GITZELMANN, R

STEINMANN, B

机构：

[1] UNIV ZURICH, DEPT PEDIAT, DIV METAB, ZURICH, SWITZERLAND

[2] UNIV ZURICH, DEPT PEDIAT, DIV RADIOL, ZURICH, SWITZERLAND

[3] UNIV ZURICH, DEPT PEDIAT, DIV NEONATOL, ZURICH, SWITZERLAND

[4] UNIV ZURICH, DEPT OBSTET, ZURICH, SWITZERLAND

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1995年 / 154卷 / 03期

关键词：

CHONDRODYSPLASIA; DOMINANT MUTATION; AMINO ACID SUBSTITUTION; ALLELIC HETEROGENEITY;

D O I：

10.1007/BF01954274

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arginine at position 380 (G380R) in the transmembrane domain of the receptor. We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.

引用

页码：215 / 219

页数：5

共 13 条

[1]

Horton William A., 1993, P641

[2] ISOLATION OF AN ADDITIONAL MEMBER OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR FAMILY, FGFR-3 [J].