The Turkish Journal of Pediatrics 2010 , Vol 52 , Num 3
A Mother and Son with Noonan Syndrome Resulting from a PTPN11 Mutation: First Report of Molecularly Proven Cases from Turkey
1Department of Pediatric Endocrinology, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey, and 2Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Noonan syndrome is an autosomal dominant disorder characterized by short stature, typical craniofacial features, and congenital heart defects. The underlying genetic defects were not clear until 2001. This report is the first to describe a molecular analysis and associated clinical features of a Turkish mother and son, who were clinically diagnosed as Noonan syndrome when the boy was referred to our department due to short stature. The analysis revealed an A¨G transition at position 923 in exon 8 of the PTPN11 gene, indicating an Asn308Ser substitution. Keywords : Noonan syndrome, PTPN11, molecular analysis
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