LAUSR

The immunoglobulin glycoprotein VI (GPVI) is a major signaling receptor on platelets for collagen, fi brin, and fi brinogen. 1 There have been 3 reports of inheritable mutations in the GP6 gene, 2 describing single individuals with compound heterozygous mutations, 2,3 whereas the third reports a homozygous mutation originally described in 5 individuals in Chile. 4 This homozygous mutation (c.711dup [ GP6 InsA/InsA ]) leads to the insertion of a premature stop codon in exon 6 (p.Val238-SerfsTer5), preventing the surface expression of GPVI. The identi fi cation and wider screening of this founder GP6 mutation provides an opportunity to assess the role of GPVI in cardiovascular health, because this unique group of patients can offer novel insight into its etiology and role in platelet biology. Since the original report, a total of 11 patients with the homozygous mutation have been identi fi ed, all of Chilean nationality and residing in distant locations, with no relatedness and nonconsanguineous parents (Figure 1). We estimated that 2.9% of Chileans are heterozygous for the GP6 mutation in a genetic screening of ~1200 individuals representative of the population, 5 suggesting more than 4000 individuals in Chile with