P256: Expanding the phenotypic description and allelic heterogeneity of the KAT6B-related disorder

Genetics in Medicine Open 2026 Open access

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Authors: Trey Lee Orndorff, Burke Berry, Beverly Nelson, Katherine R. Yearwood, Shannon C. Shipley, Dong Li, Tomoki T. Nomakuchi, Elizabeth J. K. Bhoj, Jordan Zeiger, Paul Hillman, Brittany Simpson, Andrew K. Sobering
DOI: 10.1016/j.gimo.2026.103750
Cited by: 0

Abstract

KAT6B encodes the lysine acetyltransferase 6B component of the histone H3 acetyltransferase complex. Individuals with monoallelic KAT6B variants may display variable features described as either genitopatellar syndrome (GPS; MIM 606170), Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS; MIM 603736), an intermediate phenotype, or have nonspecific features. The KAT6B-related condition is characterized by a spectrum of intellectual disability, skeletal abnormalities, and facial dysmorphism. Haploinsufficiency mechanisms are hypothesized to underlie SBBYSS syndrome.

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103750–103750
Publication date
1 January 2026
Language
EN