Journal article

Distinguishing between PTEN clinical phenotypes through mutation analysis

Stephanie Portelli, Lucy Barr, Alex GC de Sa, Douglas E Pires, David B Ascher



Phosphate and tensin homolog on chromosome ten (PTEN) germline mutations are associated with an overarching condition known as PTEN hamartoma tumor syndrome. Clinical phenotypes associated with this syndrome range from macrocephaly and autism spectrum disorder to Cowden syndrome, which manifests as multiple noncancerous tumor-like growths (hamartomas), and an increased predisposition to certain cancers. It is unclear, however, the basis by which mutations might lead to these very diverse phenotypic outcomes. Here we show that, by considering the molecular consequences of mutations in PTEN on protein structure and function, we can accurately distinguish PTEN mutations exhibiting different phe..

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Awarded by Newton Fund RCUK-CONFAP Grant - Medical Research Council

Awarded by Wellcome Trust

Awarded by National Health and Medical Research Council (NHMRC) of Australia

Funding Acknowledgements

S.P. was funded by a Melbourne Research Scholarship. A.G.C.d.S. acknowledges the Joe White Bequest Fellowship for its support. D. B.A. and D.E.V.P. were funded by a Newton Fund RCUK-CONFAP Grant awarded by The Medical Research Council (MR/M026302/1). D.B.A. was supported by the Wellcome Trust (grant 093167/Z/10/Z) and an Investigator Grant from the National Health and Medical Research Council (NHMRC) of Australia (GNT1174405). Supported in part by the Victorian Government's Operational Infrastructure Support Program.