바로가기메뉴

본문 바로가기 주메뉴 바로가기

logo

Kleefstra Syndrome: Review of the Literature

Journal of Interdisciplinary Genomics / Journal of Interdisciplinary Genomics, (E)2671-6771
2023, v.5 no.1, pp.1-4
https://doi.org/10.22742/JIG.2023.5.1.1
Rosie Lee (Department of Pediatrics, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Korea)
Jung Eun Moon (Department of Pediatrics, School of Medicine, Kyungpook National University, Kyungpook National University Hospital, Daegu, Korea)

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
Kleefstra syndrome, 9q subtelomoric deletion syndrome, Euchromatin histone methyltransferase 1, EHMT1
Submission Date
2023-03-01
Revised Date
2023-04-07
Accepted Date
2023-04-11

Journal of Interdisciplinary Genomics