P585: Further evidence for predicted loss of function variants associated with autosomal dominant KDM5B-related neurodevelopmental disease

Genetics in Medicine Open 2026 Open access

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Authors: Florencia Del Viso, Joseph T. Alaimo, Ana S.A. Cohen, Emily Farrow, Vitoria K. Paolillo, Isabelle Thiffault, Shivarajan Manickavasagam Amudhavalli, Laura Cross, Kendra L. Engleman, Emily Fleming, Janda L. Jenkins, Caitlin E. Lawson
+5 more Eric T. Rush, Susan R. Starling, Caitlin Schwager, Bonnie R. Sullivan, Carol Saunders
DOI: 10.1016/j.gimo.2026.104076
Cited by: 0

Abstract

KDM5B encodes a histone demethylase essential for chromatin structure maintenance and gene regulation. It has been previously associated with an autosomal recessive neurodevelopmental disease (NDD) with a variable phenotype characterized by developmental delay, intellectual disability, and dysmorphic features. More recently, other reports, including a recent study of 21 patients with heterozygous variants in KDM5B, 10 of which were de novo loss of function (LOF), assert a dominant model of inheritance.

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Epigenetics and DNA Methylation

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104076–104076
Publication date
1 January 2026
Language
EN