TELO2 is a gene located on the 16p13.3 chromosomal region and it regulates cell proliferation and genome maintenance. The gene has been recognized to have a role in human disease only in 2016 and only a few patients have been reported, carrying different genomic variants. The small number of patients and the absence of a recognizable phenotype does not allow to perform a genetic test targeting the disease, that is generally diagnosed with large genetic exams (e.g. Whole Exome Sequencing).
Parental testing demonstrated in all cases so far reported the present of one of the variant found in the child in each of the parent. Healthy relatives and siblings of an affected child can be eventually tested in accordance to legal regulations of the Country, in order to understand if they carry one of the familial mutations.
Prenatal diagnosis can be offered for further pregnancies of couples with a previously diagnosed child. For a couple of TELO2 mutation carriers, the risk of having an affected child is 25%.
TELO2