Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2

Frontiers in Cell and Developmental Biology, vol. 10, pp. 1046415

Abstract

Src homology region 2 (SH2)-containing protein tyrosine phosphatase 2 (SHP2) is a highly conserved protein tyrosine phosphatase (PTP), which is encoded by PTPN11 and is indispensable during embryonic development. Mutations in PTPN11 in human patients cause aberrant signaling of SHP2, resulting in multiple rare hereditary diseases, including Noonan Syndrome (NS), Noonan Syndrome with Multiple Lentigines (NSML), Juvenile Myelomonocytic Leukemia (JMML) and Metachondromatosis (MC). Somatic mutations in PTPN11 have been found to cause cancer. Here, we focus on the role of SHP2 variants in rare diseases and advances in the understanding of its pathogenesis using model systems.

Authors 3

1. Maja Šolman

   University Medical Center Utrecht

   Affiliation as printed

   Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht, Netherlands

2. Daniëlle T.J. Woutersen

   University Medical Center Utrecht

   Affiliation as printed

   Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht, Netherlands

3. Jeroen den Hertog corresponding Aachen Institute Biology Leiden

   Leiden University · University Medical Center Utrecht

   Affiliation as printed

   Hubrecht Institute-KNAW, University Medical Center Utrecht, Utrecht, Netherlands

   Institute Biology Leiden, Leiden University, Leiden, Netherlands