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Article

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

American journal of human genetics - 10 Feb 2012

Campeau Philippe M, Kim Jaeseung C, Lu James T, Schwartzentruber Jeremy A, Abdul-Rahman Omar A, Schlaubitz Silke, Murdock David M, Jiang Ming-Ming, Lammer Edward J, Enns Gregory M, Rhead William J, Rowland Jon, Robertson Stephen P, Cormier-Daire Valérie, Bainbridge Matthew N, Yang Xiang-Jiao, Gingras Marie-Claude, Gibbs Richard A, Rosenblatt David S, Majewski Jacek, Lee Brendan H

Abstract excerpt

Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 and MORF) in...

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Identifiers

PMID: 22265014
DOI: 10.1016/j.ajhg.2011.11.023
PMCID: PMC3276659

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22265014-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.PMID 22265014Read ↗

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Semantic proximity Read ↗

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.Semantic proximity Read ↗

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.Semantic proximity Read ↗

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.Semantic proximity Read ↗

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.Semantic proximity Read ↗

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.Semantic proximity Read ↗

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.Semantic proximity Read ↗

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.Semantic proximity Read ↗

<i>KAT6A</i> mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior <i>HOXC</i> clusterSemantic proximity Read ↗

The roles of the acetyltransferase domains of the chromatin regulators KAT6A and KAT6B in vivo.Semantic proximity Read ↗

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<i>KAT6A</i> mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid modelSemantic proximity Read ↗

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