At least 11 mutations in the PTPN11 gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, a sunken or protruding chest, and distinctive facial features.

2025年3月30日 · PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) is a Protein Coding gene. Diseases associated with PTPN11 include Noonan Syndrome 1 and Juvenile Myelomonocytic Leukemia. Among its related pathways are Downstream signaling of activated FGFR2 and Negative regulation of FGFR3 signaling.

PTPN11 as the first proto-oncogene that encodes a cytoplasmic tyrosine phosphatase with Shp2 domain; diseases caused by mutations; role in hematopoiesis; PTPN11 missense mutations are associated with acute myeloid leukemia

2022年2月25日 · Patients with N-terminal SH2 domain PTPN11 mutations had an early death (<30 days) more often than those with phosphatase domain mutations. PTPN11 mutations are associated with inferior outcomes in AML patients with wild-type NPM1.

2025年1月4日 · PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates.

2006年10月19日 · One new advance in this field is the identification of PTPN11 as the first proto-oncogene that encodes a cytoplasmic tyrosine phosphatase with 2 Src-homology 2 (SH2) domains (Shp2). This tyrosine phosphatase was previously shown to play an essential role in normal hematopoiesis.

The PTPN11 mutation was predicted to destabilize the inactive form of PTPN11, resulting in increased basal activity and a gain of function. The proband had hypertelorism, low-set ears, short stature, delayed development, sternal abnormalities, and valvular pulmonary stenosis.

2020年6月19日 · To elucidate the effect of PTPN11 mutations (PTPN11mut) on clinical outcomes, we screened adult patients with AML treated at our institution using targeted next-generation sequencing. Among...

2024年1月1日 · PTPN11 is a gene that produces SHP2, a tyrosine phosphatase (PTP) protein. A gain of function mutation in PTPN11 is responsible for approximately 50% of cases of Noonan syndrome (NS).

To elucidate the effect of PTPN11 mutations (PTPN11 mut) on clinical outcomes, we screened adult patients with AML treated at our institution using targeted next-generation sequencing. Among 1406 consecutive patients, 112 (8%) had PTPN11 mut.