Artículos de revistas
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects
Fecha
2015Registro en:
Horm Res Paediatr 2015;84:254–257
1663-2818
DOI: 10.1159/000439109
Autor
Poggi, Helena
Vera, Alejandra
Avalos, Carolina
Lagos, Marcela
Mellado, Cecilia
Aracena, Mariana
Aravena Cerda, Teresa
García, Hernán
Godoy, Claudio
Cattani, Andreína
Reyes, Loreto
Lacourt, Patricia
Rumie, Hana
Mericq, Verónica
Arriaza, Marta
Martinez Aguayo, Alejandro
Institución
Resumen
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