Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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Kleefstra Syndrome: Review of the Literature

  • Rosie Lee (Department of Pediatrics, School of Medicine, Kyungpook National University, Kyungpook National University Hospital) ;
  • Jung Eun Moon (Department of Pediatrics, School of Medicine, Kyungpook National University, Kyungpook National University Hospital)
  • Received : 2023.03.01
  • Accepted : 2023.04.11
  • Published : 2023.04.30
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Abstract

Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the Euchromatin Histone Methyl Transferase 1 (EHMT1) gene. The prevalence is estimated 1:25,000 to 1:35,000. Intellectual disability, distinctive facial features, hypotonia in childhood can be accompanied. The spectrum of Kleefstra syndrome includes behavioral/psychiatric problems, hearing and visual impairments, seizures, congenital heart defects, genitourinary defects, and obesity. Therefore, it is necessary to understand the pathophysiology and various manifestation of Kleefstra syndrome and discussing with a multidisciplinary team will help diagnose and treat Kleefstra syndrome patients.

Keywords

Acknowledgement

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

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