dc.creator | Poggi, Helena | |
dc.creator | Vera, Alejandra | |
dc.creator | Avalos, Carolina | |
dc.creator | Lagos, Marcela | |
dc.creator | Mellado, Cecilia | |
dc.creator | Aracena, Mariana | |
dc.creator | Aravena Cerda, Teresa | |
dc.creator | García, Hernán | |
dc.creator | Godoy, Claudio | |
dc.creator | Cattani, Andreína | |
dc.creator | Reyes, Loreto | |
dc.creator | Lacourt, Patricia | |
dc.creator | Rumie, Hana | |
dc.creator | Mericq, Verónica | |
dc.creator | Arriaza, Marta | |
dc.creator | Martinez Aguayo, Alejandro | |
dc.date.accessioned | 2015-12-22T18:40:54Z | |
dc.date.available | 2015-12-22T18:40:54Z | |
dc.date.created | 2015-12-22T18:40:54Z | |
dc.date.issued | 2015 | |
dc.identifier | Horm Res Paediatr 2015;84:254–257 | |
dc.identifier | 1663-2818 | |
dc.identifier | DOI: 10.1159/000439109 | |
dc.identifier | http://repositorio.uchile.cl/handle/2250/135903 | |
dc.description.abstract | Background: 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. Aim: To describe the molecular and clinical findings
observed in 23 of 45 non-consanguineous Chilean patients
with different phenotypes related to SHOX deficiency. Methods:
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). Results:
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. Conclusion: 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 | |
dc.language | en | |
dc.publisher | Karger | |
dc.rights | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
dc.rights | Atribución-NoComercial-SinDerivadas 3.0 Chile | |
dc.subject | SHOX deficiency | |
dc.subject | Short stature | |
dc.subject | Leri-Weill syndrome | |
dc.subject | Langer mesomelic dysplasia | |
dc.title | A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects | |
dc.type | Artículos de revistas | |