A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects

Hormone Research in Pædiatrics
Helena PoggiAlejandro Martinez-Aguayo

Abstract

Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. To describe the molecular and clinical findings observed in 23 of 45 non-consanguineous Chilean patients with different phenotypes related to SHOX deficiency. Multiplex ligation-dependent probe amplification was used to detect the deletions; the SHOX coding region and deletion-flanking areas were sequenced to identify point mutations and single-nucleotide polymorphisms (SNPs). 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. 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 knowle...Continue Reading

Citations

Jun 30, 2016·Endocrine Reviews·Antonio MarchiniGudrun A Rappold
Dec 14, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Anil KumarMadhulika Kabra
Nov 22, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Denise P CavalcantiCarlos R Ferreira

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