Whole Exome Sequencing in Idiopathic Short Stature: rare mutations affecting growth

Abstract

Introduction: one of the most common causes of referrals to paediatricians is short stature (ISS), some pathogenic mutations may present exactly similar to non-pathogenic causes, our goal is to identify and treat these patients labelled ISS with these mutations and hopefully treat them correctly. Materials and Methods: We assessed All children under the age of fifteen years labelled as ISS. Fourteen of them were confirmed to be ISS and thus were allowed in our study. Afterwards, we pooled their blood specimens and ordered a whole-exome sequencing (WES) test. Results: five patient had normal WES results. Four patients had rare motions that were not studied in the previous literature but due to the functions of the genes, and our patients’ phenotypes it is highly possible that these mutations caused our patients’ short stature. Four patients had known genetic mutations causing short stature. One patient had a mutation with no effect on height. With the help of WES, some rare mutations were found, with the patients’ phenotype and evaluation we identified their function, we diagnosed some other patients’ rare genetic disorders and assessed the possible effect of their mutation on their height and phenotype we aimed to determine how many children labelled as ISS are correctly diagnosed. By WES most of our patient achieved the correct diagnosis which would be impossible to diagnose without WES; thus the reason for their short stature was identified, with the correct diagnosis now we can aim for the proper treatment.