Unraveling the Genotype-Phenotype Landscape of Kleefstra Syndrome Through EHMT1 Variant Analysis
Kleefstra syndrome type 1 (KLEFS1) is a rare neurodevelopmental disorder caused by pathogenic variants in EHMT1, which play a key role in epigenetic regulation. Core features include global developmental delay (GDD), intellectual disability (ID), facial dysmorphism, congenital heart defects (CHDs), and neuropsychiatric manifestations.
Authors
- Jung Min Ko (ORCID: https://orcid.org/0000-0002-0407-7828)
- Jong Ho Cha (ORCID: https://orcid.org/0000-0002-7883-8714)
- Jee Min Kim (ORCID: https://orcid.org/0000-0003-1583-2224)
- Jong‐Hee Chae (ORCID: https://orcid.org/0000-0002-9162-0138)
- Byung Chan Lim (ORCID: https://orcid.org/0000-0002-8509-4135)
- Soo Yeon Kim (ORCID: https://orcid.org/0000-0003-2240-3647)
- Seungbok Lee (ORCID: https://orcid.org/0000-0002-3145-8714)
- Woo Joong Kim (ORCID: https://orcid.org/0000-0002-0539-1448)
Institutions
- Seoul National University Hospital (KR)
- Seoul National University Children's Hospital (KR)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-10-15
- DOI
- https://doi.org/10.1212/nxg.0000000000200445
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Korea Health Industry Development Institute
- Advanced Research Projects Agency