Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutations of fibroblast growth factor receptor 2 gene (FGFR2) in two Chinese families with Crouzon syndrome.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>