FGFR2 gene mutation in a Chinese patient with Apert syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To determine the disease-causing mutation in a Chinese patient with Apert syndrome (AS).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally.</p><p><b>RESULTS</b>A heterozygous 934C to G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein (S252W). This mutation has been reported in AS patients previously.</p><p><b>CONCLUSION</b>This Chinese AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.</p>