مرکز منطقه ای اطلاع رساني علوم و فناوري - A research on SHOX gene mutations in idiopathic short stature

Abstract :

Aim: Short stature, which can be seen in childhood very commonly with a rate of 2%, has a medical and social importance. Idiopathic short stature is defined as the body height of an individual - without dysmorphic, systemic, endocrinological, nutritional and chromosomal abnormalities, but with normal levels of growth hormone- to be 2 SD lower than the mean height calculated in a particular population of the same age and sex. Various mutations in specifi c genes have been identifi ed in some patients with ISS. One of these genes is SHOX gene, located in the X and Y chromosome’s p arm, 700 kb distal of the pseudoautosomal region (PAR1). Mutations in this gene have been shown to be responsible for ISS cases for some part.Therefore, in this study the presence of these mutations in SHOX gene was investigated in order to explain the etiology of ISS patients. Materials and methods: Twenty-five patients who were admitted to Pamukkale University Hospital Division of Pediatric Endocrinology and diagnosed with ISS have been included in this study. Right after DNA isolation from peripheral blood samples, 2-6 exons of the SHOX gene were amplified by Polymerase Chain Reaction using specific primers. Presence of mutation in these exons was investigated by DNA sequence analysis. Results: Mutation was not detected in patients included in this study. Because of the fact that heterozygous Single Nucleotide Polymorphisms was not found in the analyzed gene region, the presence of gene deletion in SHOX could not be evaluated. Conclusion: It would be appropriate to analyze SHOX gene deletions by FISH or MLPA methods together with mutation analysis in patients diagnosed with ISS. In addition, it has been thought that individuals having no SHOX gene defects should be investigated for the other genes that may be responsible for short stature, and this may enlighten the genetic factors effective in body growth, also will contribute to other studies about the relationship between the elucidation of genotype-phenotype correlation and response to treatment.