Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing

Abstract

Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene inchildren with idiopathic short stature (ISS) by the usage of fluorescence in situ hybridization (FISH) and direct sequencing technique.Materials and methods: Thirty-seven children referred to our clinic because of short stature were classified as having ISS after clinicalexamination. Chromosome analyses, FISH analysis of the SHOX gene, and direct sequencing of the coding exons of SHOX, through thesecond to the sixth exon, in 24 of the 37 patients were also performed.Results: All children had normal karyotypes and the SHOX gene region was found to be intact in all. No mutation was detected in theexonic sequences and exon/intron boundaries of the SHOX gene in 24 children analyzed.Conclusion: No mutation was detected in the exonic sequences and exon/intron boundaries of the SHOX gene and this indicated thatthe prevalence of the SHOX mutations can differ according to the selection criteria, used methods, sample size, and population.