Different phenotypic characteristics on the basis of the type of mistake in the DNA


Different patients with the PTEN hamartoma tumor syndrome (PHTS) can have very different phenotypic presentations of the syndrome. Patients can present for example with little bumps on the skin, a larger circumference of the head, abnormalities of the thyroid and/or cancer.


Until today, it is not clear why there is so much difference between the patients. We do not know who will develop which phenotypic characteristics.


In this study, we describe the different phenotypic characteristics of PHTS and compare this with the type of mistake in the DNA of the PTEN-gene. In this study, we see that patients who have a larger head circumference of developmental delay have more often a different type of mistake in the DNA than patients who have abnormalities of the skin or thyroid. Further research is needed to look into this more.


Eventually, these findings can be interesting for developing more personalized health care for PHTS patients in the future.


Hendricks, L.A.J. et al. (2022), Genotype-phenotype associations in a large PTEN Hamartoma Tumor syndrome (PHTS) patient cohort. Eur J Med Genet. 2022;65(12):104632. https://doi.org/10.1016/j.ejmg.2022.104632