Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome.
- Author:
Yanru HUANG
1
;
Libin MEI
;
Wei SU
;
Pu YANG
;
Desheng LIANG
;
Lingqian WU
;
Qian PAN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Case-Control Studies; Child; China; Craniofacial Dysostosis; genetics; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation, Missense; Pedigree; Receptor, Fibroblast Growth Factor, Type 2; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2014;31(3):272-275
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutations of fibroblast growth factor receptor 2 gene (FGFR2) in two Chinese families with Crouzon syndrome.
METHODSGenomic DNA was extracted from peripheral blood leukocytes of 20 members from two affected families. All of the 18 exons of the FGFR2 gene were amplified with polymerase chain reaction and sequenced after purification.
RESULTSA missense mutation c.868T>C (p.W290R) in exon 8 of the FGFR2 gene was found solely in 2 affected members from family 1. Another missense mutation c.833G>T (p.C278F) in exon 8 was found solely in 5 affected members of family 2.
CONCLUSIONThe missense mutations of the FGFR2 gene are responsible for the Crouzon syndrome in the two families. The c.868T>C missense mutation is reported for the first time in Chinese population.
