Study On Genic Mutation In A Patient With Noonan Syndrome

Objective: Study on genic mutations in a patient with NS and her parents by DNA sequence comparison, for finding the mutational site and demonstrating that the mutation are correlated with NS.Methods: The object of the study was a child with NS and CHD (congenital heart disease), who got an operation in the Second Xiang-Ya Hospital. The child was screened for mutation in the PTPN11 gene. Genomic DNA samples were extracted from peripheral whole blood of the patient and her parents using the standard procedure. Exons 1-15 of the PTPN11 gene were individually amplified by polymerase chain reaction (PCR) using 15 sets of primer sequences derived from published data. The PCR products were then purified using the High Purified PCR Product Purification Kit and directly sequenced using 3100 Genic Analysator.Results: By DNA sequencing, a PTPN11 mutational site was find in exon 3, (181 G>A: D61N) which has previously been identified in patients from other countries.Conclusions: This study documented the PTPN11 mutation and the phenotypic correlations in the patient with NS.