[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):272-5. doi: 10.3760/cma.j.issn.1003-9406.2014.03.003.
[Article in Chinese]

Abstract

Objective: To detect potential mutations of fibroblast growth factor receptor 2 gene (FGFR2) in two Chinese families with Crouzon syndrome.

Methods: Genomic 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.

Results: A 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.

Conclusion: The 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian People / 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

Substances

  • Receptor, Fibroblast Growth Factor, Type 2