The present study was carried out on four Pendred families defining p.Y556C mutation recurrent and to be included in mutation spectrum of Pakistani population as founder mutation
While some founder mutations
accounting for a significant proportion of disease alleles have been identified in specific ethnic groups, hundreds of extremely rare or private variants have also been identified [12-14].
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).
that p.Ala306Thr could be a "founder mutation
" was supported by the observation of linked haplotypes of STR markers segregating with hearing loss in two families .
Bertoni et al., "(GCG)11 founder mutation
in the PABPN1 gene of OPMD Uruguayan families," Neuromuscular Disorders, vol.
Haplotype analysis revealed that p.Ala306Thr is likely to be a founder mutation
in the Korean population .
In 'Breast cancer in high-risk Afrikaner families: Is BRCA founder mutation
testing sufficient?',  Seymour et al.
In Southern Brazil, a variant form of LFS, Li-Fraumeni-like syndrome (LFL), occurs as a result of a founder mutation
in exon 10 of TP53, replacing an arginine with histidine at codon 337 (p.R337H), which falls within the oligomerization domain (7).
This finding called into question the proposed role of NPM-1 as a founder mutation
, suggesting that DNMT3A mutations may precede NPM-1 mutations.
Elpeleg, "Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation
in Iraqi Jews," American Journal of Human Genetics, vol.
Certain leukodystrophies (megalencephalic leukodystrophy) have been shown to be common in the certain community and the founder mutation
has also been identified previously.