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Article

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Molecular genetics & genomic medicine - 1 Dec 2023

Klaniewska Magdalena, Bolanowska-Tyszko Anna, Latos-Bielenska Anna, Jezela-Stanek Aleksandra, Szczaluba Krzysztof, Krajewska-Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz-Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert

Abstract excerpt

BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family. Currently, diseases caused by pathogenic variants in KAT6B (KAT6B-related disorders) comprise two...

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PMID: 37658610
DOI: 10.1002/mgg3.2265
PMCID: PMC10724496

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