Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 55 10 2017 12 02 650 654 EN Mehrdad Noruzinia Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Mohammad Ahmadvand Hematology, Oncology and Stem Cell Transplantation Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. Oranous Bashti Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran. Ahmad Reza Salehi Chaleshtori Department of Medical Genetics, School of Medical Sciences, Tarbiat Modares University, Tehran, Iran. 2016 05 31 2016 08 15 Kleefstra Syndrome is characterized by severe mental retardation, brachycephaly, microcephaly, epileptic seizures, distinct facial features, and infantile weak muscle tone and heart defects. Deletion of EHMT1 is the main player in 75% of cases. Because of blurriness in genotype-phenotype correlation through clinical and molecular features of both 9q34.3 microdeletion patients and those with an intragenic EHMT1 mutation in Kleefstra Syndrome, genetic characterization of patients with clinical symptoms of such spectrum is desirable. We report the first Kleefstra Syndrome patient in Iran characterized through genetic approaches. Our report could improve KS diagnosis in Iran and prepare PND and PGs options for involved families. https://acta.tums.ac.ir/index.php/acta/article/view/5676 https://acta.tums.ac.ir/index.php/acta/article/download/5676/5003