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

Authors: ABDULLATİF BAKIR, MERAL YİRMİBEŞ KARAOĞUZ, FERDA EMRİYE PERÇİN, ESRA TUĞ, PEYAMİ CİNAZ, MEHMET ALİ ERGÜN

Abstract: Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene in children with idiopathic short stature (ISS) by the usage of uorescence in situ hybridization (FISH) and direct sequencing technique. Materials and methods: Thirty-seven children referred to our clinic because of short stature were classi ed as having ISS a er clinical examination. Chromosome analyses, FISH analysis of the SHOX gene, and direct sequencing of the coding exons of SHOX, through the second 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 the exonic 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 that the prevalence of the SHOX mutations can di er according to the selection criteria, used methods, sample size, and population.

Keywords: Idiopathic short stature, microdeletion, mutation analyses, uorescence in situ hybridization, SHOX gene

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