Article
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
American journal of human genetics - 8 Aug 2024
Yoon Jihoon G, Lim Seong-Kyun, Seo Hoseok, Lee Seungbok, Cho Jaeso, Kim Soo Yeon, Koh Hyun Yong, Poduri Annapurna H, Ramakumaran Vijayalakshmi, Vasudevan Pradeep, de Groot Martijn J, Ko Jung Min, Han Dohyun, Chae Jong-Hee, Lee Chul-Hwan
Abstract excerpt
Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for various developmental and physiological functions. Although its dysfunction is increasingly recognized in abnormal phenotypes, to our knowledge, there have been no established reports of human diseases directly linked to HDAC3 dysfunction. Using trio exome sequencing and extensive phenotypic analysis, we correlated heterozygous de novo...
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