What is it about?
Noonan syndrome (NS), an autosomal dominant disease, is characterized by short stature, congenital heart defects, developmental delay and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Brain tumors remain rather rare.
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Why is it important?
This report provides further support for the relation of dysembryoplastic neuroepithelial tumor (DNT) with RASopathies and for the implication of RAS/MAPK pathways in sporadic low grade glial tumors.
Perspectives
The link between NS and DNT should be reinforced by further reports. A better understanding of DNTs and particularly of their origin may be expected.
Marie Bernadette Delisle
Read the Original
This page is a summary of: Noonan syndrome,PTPN11mutations, and brain tumors. A clinical report and review of the literature, American Journal of Medical Genetics Part A, March 2017, Wiley,
DOI: 10.1002/ajmg.a.38108.
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