Neurofibromatosis-Noonan Syndrome, A Rare Case Report

ABSTRACT

Neurofibromatosis-Noonan syndrome is a rare disorder which shows the features of both neurofibromatosis type 1 and Noonan syndrome. Mutations in the NF1 gene were identified in majority of  Neurofibromatosis-Noonan Syndrome cases. The co-occurrence of NF1 and PTPN11 mutations has been shown in very few studies and has been attributed  to a denova mutation either in NF1 or PTPN11. We didn’t see PTPN11 gene mutations without NF1 mutations in Neurofibromatosis-Noonan Syndrome patients in the literature. Here, we report a 7-year-old boy who had clinical features of Neurofibromatosis-Noonan Syndrome with a mutation in the PTPN11 gene. He has 3 homozygous missense mutation in PTPN11 gene (g.584G>T, g.794C>T, g.28145G>C). These mutations are shown that the cause of disorder at database but it was not found  any manuscript in the literature.

Key words: Neurofibromatosis type 1, Noonan Syndrome, café-au-lait macules, short stature, children