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A mother and son with Noonan syndrome resulting from a PTPN11 mutation.

Recently, we read a report about Noonan syndrome entitled “A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey” published in the Turkish Journal of Pediatrics (2010; 52: 321-324). The authors reported a mother and son with Noonan syndrome (NS) whose molecular analysis showed an A923G mutation in exon 8 of the PTPN11 gene. It was noted that this is the first report of molecularly proven cases from Turkey. However, before that, there were two studies about NS patients and their PTPN11 gene analysis results in both a national journal and two Congresses in Turkey1-3. Furthermore, the same A923G mutation and its clinical picture was previously reported in a national journal3.