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 Netherlands.org
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