Descriptive comparisons were also made with the previously published data on the physical phenotypic characteristics in black South African patients with FA caused by a homozygous FANCG founder mutation
As for BRCA2, the most frequent mutations besides the previously reported founder mutation
3034delACAA (8 patients), were C5972T (11 patients) and 6328C>T (3 patients), all of which could be considered founder mutations
in Colombia (Tables 1 and 2).
No formal guidelines currently exist to assist genetic counsellors or their counsellees in determining whether founder mutation
analysis is sufficient or whether additional testing should be pursued following a negative result for the founder mutations
identified in this population group.
It might be possible that this mutation is also caused by the same founder mutation
described previously, however, more studies are necessary to confirm this hypothesis.
659_660delTA mutation has been suggested as a common founder mutation
between the Pakistani and the Guyanese families that are living in geographically distinct region.
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
A founder mutation
in anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common 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.
The CHRNE 1293insG founder mutation
is a frequent cause of congenital myasthenia in North Africa.
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation
Evidence for a founder mutation
causing DFNA5 hearing loss in East Asians.