Analysis of patients with craniosynostosis syndromes for a Pro246Arg mutation in FGFR4

被引：11

作者：

Gaudenz, K

Roessler, E

Vainikka, S

Alitalo, K

Muenke, M

机构：

[1] Univ Penn, Childrens Hosp Philadelphia, Sch Med, Div Human Genet & Mol Biol, Philadelphia, PA 19104 USA

[2] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

[3] Univ Penn, Sch Med, Dept Genet, Philadelphia, PA 19104 USA

[4] Univ Helsinki, Haartman Inst, Mol Canc Biol Lab, SF-00014 Helsinki, Finland

来源：

MOLECULAR GENETICS AND METABOLISM | 1998年 / 64卷 / 01期

关键词：

fibroblast growth factor receptor; FGFR4; craniosynostosis;

D O I：

10.1006/mgme.1998.2694

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

An identical amino acid substitution in fibroblast growth factor receptors (FGFR) 1, 2 and 3 occurs in patients with different craniosynostosis syndromes. We tested 113 patients with various craniosynostosis syndromes for the analogous Pro246Arg mutation in FGFR4 by a PCR-restriction enzyme assay. None of the patients displayed this change nor other mutations in the conserved linker region, as tested by SSCP analysis. Mutations in this domain of FGFR4 are unlikely to contribute significantly to craniosynostosis in humans, (C) 1998 Academic Press.

引用

页码：76 / 79

页数：4

共 22 条

[11]

PARK WJ, 1995, AM J HUM GENET, V57, P748

[12] FGFR-4, A NOVEL ACIDIC FIBROBLAST GROWTH-FACTOR RECEPTOR WITH A DISTINCT EXPRESSION PATTERN [J].