True heterozygosity for the founder mutation
was confirmed in 2/3 patients by testing the parents.
Such founder mutations
are not unique to Ashkenazi Jews.
It is known that a significant fraction of the families with mutations in mismatch repair genes are due to founder mutations
in Finnish populations (28) but the scenario in Indian subcontinent is still beyond understanding.
have been established for the Ashkenazi Jewish and Afrikaner population groups, and this should be taken into consideration when deciding on a genetic testing strategy.
for Glaucoma Caused by TIGR/Myocilin in the
Several inherited diseases occur in Afrikaners as a result of founder mutations
However, in terms of the prevalence of inherited susceptibility to PPGL in individual populations, it is important to consider that the presence of founder mutations
For example, the Ashkenazi Jewish population has three founder mutations
that put them at about a 10-fold increased risk for having a BRCA1 or BRCA2 gene mutation.
Those probands whose heritage was exclusively Ashkenazi Jewish were included in the study if they tested negative for the three Ashkenazi founder mutations
because such testing has been shown to identify approximately 95% of detectable BRCA mutations, Dr.
The remaining 1,075 had a genetic analysis restricted to the three specific Ashkenazi Jewish founder mutations