English

PTEN

Gene product: Phosphatase And Tensin Homolog.

Protein function: It can antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival. In addition, it plays a role as a key modulator of the AKT-mTOR signaling pathway during neurogenesis, including correct neuron positioning, dendritic development and synapse formation (Schematic diagram 1).

Phenotype: Cowden syndrome 1 (AD) [1]; Lhermitte-Duclos disease (AD) [2]; Macrocephaly/autism syndrome (AD) [3]; Prostate cancer, somatic [4]; Glioma susceptibility 2 [5]; Meningioma (AD) [6]；Polymicrogyria[7]。.

Mutation database: ClinVar.

Clinical and basic research: PubMed (PMID: 32399470 (Mol Neuropsychiatry. 2020)).

 

Schematic diagram 1

PTEN

 

References:

  1. Zhou, X.P., et al., Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet, 2003. 73(2): p. 404-11.
  2. Abel, T.W., et al., Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol, 2005. 64(4): p. 341-9.
  3. Ueno, Y., et al., A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. Hum Genome Var, 2019. 6: p. 25.
  4. Wise, H.M., M.A. Hermida, and N.R. Leslie, Prostate cancer, PI3K, PTEN and prognosis. Clin Sci (Lond), 2017. 131(3): p. 197-210.
  5. Xiao, W.Z., et al., Relationships between PTEN gene mutations and prognosis in glioma: a meta-analysis. Tumour Biol, 2014. 35(7): p. 6687-93.
  6. Peters, N., et al., Analysis of the PTEN gene in human meningiomas. Neuropathol Appl Neurobiol, 1998. 24(1): p. 3-8.
  7. Shao, D.D., et al., Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol, 2020. 88(6): p. 1153-1164.