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Case Reports
. 2017 Oct;55(10):650-654.

Kleefstra Syndrome: The First Case Report From Iran

Mehrdad Noruzinia  1 , Mohammad Ahmadvand  2 , Oranous Bashti  1 , Ahmad Reza Salehi Chaleshtori  1
Affiliations
  • PMID: 29228531
Free article
Case Reports

Kleefstra Syndrome: The First Case Report From Iran

Mehrdad Noruzinia et al. Acta Med Iran. 2017 Oct.
Free article

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.

Keywords: Deletion; EHMT1; Iran; Kleefstra syndrome.

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