(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects

“…Other than Uruguayan patients,18 this is the only Latin American OPMD population that has been molecularly characterised to date, and our data are consistent with a common ancestral origin of the most prevalent allele, (GCG) 11 (GCA) 3 (GCG), in these two countries. All remaining non-(GCG) 11 (GCA) 3 (GCG) patients in our sample had a (GCG) 9 (GCA) 3 (GCG) expansion.…”

“…In the remaining three families, affected relatives were concordant with rs2239579(C)–(GCG) 11 -SNP2622(C) as the disease allele. Interestingly, this haplotype is identical to that recently identified in (GCG) 11 (GCA) 3 (GCG) Uruguayan patients with OPMD,18 suggesting a common ancestral origin for this allele in Latin American OPMD populations. On the other hand, all seven patients carrying the (GCG) 9 (GCA) 3 (GCG) mutation consistently had at least one thymine in rs2239579 and at least one cytosine in SNP2622 (table 1).…”

“…The prevalence of a given (GCN) expanded allele in a specific OPMD population is largely dependent upon founder effect mutations, and this effect has been demonstrated in several populations 5 16 – 18. Analysis of large groups of patients with OPMD from different ethnic backgrounds will help to identify specific genotype-phenotype correlations as well as the relative contribution of each expanded allele to the disease.…”

Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy

“…In some populations such as French-Canadian, Bukhara Jewish, and Uruguayan families a single founder was identified [1,15,16]. Multiple founders were suggested in Cajuns [8].…”

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

“…Numerous studies have used combined mutation and haplotype data to suggest founder effects that are consistent with the known migration patterns of the populations involved [Uyguner et al, 2003;Lucas et al, 2005;Najmabadi et al, 2005;Rodriguez et al, 2005]. Others have tracked the origins of mutations based on frequency gradients of the associated haplotypes [Levo et al, 1999;Lucotte, 2001], or used common haplotypes to suggest relationships among families [Le Bizec et al, 2005].…”