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Kleefstra Syndrome: The First Case Report From Iran



Noruzinia M1 ; Ahmadvand M2 ; Bashti O1 ; Chaleshtori ARS1
Authors

Source: Acta Medica Iranica Published:2017

Abstract

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. © 2017 Tehran University of Medical Sciences. All rights reserved.
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