Supplementary Material for: A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with <b><i>SHOX</i></b> Gene Defects

<b><i>Background:</i></b> Deletions in the <i>SHOX</i> gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. <b><i>Aim:</i></b> To describe the molecular and clinical findings observed in 23 of 45 non-consanguineous Chilean patients with different phenotypes related to <i>SHOX</i> deficiency. <b><i>Methods:</i></b> Multiplex ligation-dependent probe amplification was used to detect the deletions; the <i>SHOX</i> coding region and deletion-flanking areas were sequenced to identify point mutations and single-nucleotide polymorphisms (SNPs). <b><i>Results:</i></b> The main genetic defects identified in 21 patients consisted of deletions; one of them, a large deletion of >800 kb, was found in 8 patients. Also, a smaller deletion of >350 kb was observed in 4 patients. Although we could not precisely determine the deletion breakpoint, we were able to identify a common haplotype in 7 of the 8 patients with the larger deletion based on 22 informative SNPs. <b><i>Conclusion:</i></b> These results suggest that the large deletion-bearing allele has a common ancestor and was either introduced by European immigrants or had originated in our Amerindian population. This study allowed us to identify one recurrent deletion in Chilean patients; also, it contributed to expanding our knowledge about the genetic background of our population.