title: SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.
abstract: SHOX gene mutations or haploinsufficiency cause a wide range of phenotypes such as Leri Weill dyschondrosteosis (LWD), Turner syndrome, and disproportionate short stature (DSS). However, this gene has also been found to be mutated in cases of idiopathic short stature (ISS) with a 3-15% frequency. In this study, the multiplex ligation-dependent probe amplification (MLPA) technique was employed to determine the frequency of SHOX gene mutations and their conserved noncoding elements (CNE) in Colombian patients with ISS. Patients were referred from different centers around the county. From a sample of 62 patients, 8.1% deletions and insertions in the intragenic regions and in the CNE were found. This result is similar to others published in other countries. Moreover, an isolated case of CNE 9 duplication and a new intron 6b deletion in another patient, associated with ISS, are described. This is one of the first studies of a Latin American population in which deletions/duplications of the SHOX gene and its CNE are examined in patients with ISS.
authors.affiliation: Institute of Genetics, School of Medicine, Master in Human Genetics, Universidad Nacional de Colombia Colombia.
authors.forename: Gloria Tatiana Vinasco
authors.initials: GT
authors.lastname: Sandoval
authors.affiliation: Department of Pediatrics, Hospital Militar Central Colombia.
authors.forename: Giovanna Carola
authors.initials: GC
authors.lastname: Jaimes
authors.affiliation: Department of Pediatrics, Hospital De La Misericordia, Universidad Nacional De Colombia Colombia.
authors.forename: Mauricio Coll
authors.initials: MC
authors.lastname: Barrios
authors.affiliation: Department of Pediatrics, Hospital San Ignacio, Pontificia Universidad Javeriana Colombia.
authors.forename: Camila
authors.initials: C
authors.lastname: Cespedes
authors.affiliation: Institute of Genetics, School of Medicine, Master in Human Genetics, Universidad Nacional de Colombia Colombia.
authors.forename: Harvy Mauricio
authors.initials: HM
authors.lastname: Velasco
keywords: Idiopathic short stature; Latin America; SHOX; mutations; regulatory regions