The parents of two of the patients were available and tested for the presence of the founder mutation
to determine true heterozygosity and exclude gene conversion in the probands.
The impact of receiving pre-test counselling for founder mutations
from a primary care staff member, rather than a genetic counsellor, requires formal investigation.
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation
One of a couple who emigrated from Hesse, Germany to the United States in the early 1700s established a founder mutation
in the U.
Two variants in CDKN2A were also chosen: the codnn 113 arginine insertion founder mutation
(ins113R), which is the most common CDKN2A alteration in Swedish melanoma families (12,13), and the A148T amino acid change, because it has been proposed to be associated with increased risk of development of malignant melanoma (14-16).
The 2588G [right arrow] C mutation in the ABCR gene is a mild frequent founder mutation
in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
Because R114H has been found only in Asian patients, it would seem that R114H is a founder mutation
contributing to HSCR in Asia.
6 kb): a founder mutation
in the Palestinian Arabs.