Mutational Analysis of PTPN11 Gene in Noonan Syndrome / 대한소아내분비학회지

ABSTRACT

PURPOSE: Noonan syndrome (NS), congenital malformation syndrome characterized by distinct facial anomalies, short stature and variable congenital heart defects, is thought to be caused by mutations of the gene for PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11). The aim of this study is to know the type and detection rate of mutations of PTPN11 in NS. METHODS: This study consisted of 17 NS patients (11 males and 6 females). All of the NS patients met the diagnostic criteria proposed by van der Burgt et al. The leukocyte genomic DNA of each patients was amplified by PCR for 7 exons, where the mutations had been reported so far, out of 15 exons of PTPN11 gene. And the PCR products were subjected to direct sequencing from both directions. RESULTS: All 17 NS patients were sporadic cases. Heterozygous PTPN11 mutations were identified in 3 of the 17 patients (17.6%, all males). All mutations were known missense mutations. They consist of two D61N in exon 3 and one S502T in exon 13. CONCLUSION: This study showed 17.6% (3/17) of detection rate of PTPN11 gene mutation in NS. This is smaller than that of previous reports. The further study with larger number of cases will be needed to analyse type of mutation and genotype-phenotype correlation.