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Article

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Orphanet journal of rare diseases - 10 Feb 2020

Urreizti Roser, Lopez-Martin Estrella, Martinez-Monseny Antonio, Pujadas Montse, Castilla-Vallmanya Laura, Pérez-Jurado Luis Alberto, Serrano Mercedes, Natera-de Benito Daniel, Martínez-Delgado Beatriz, Posada-de-la-Paz Manuel, Alonso Javier, Marin-Reina Purificación, O'Callaghan Mar, Grinberg Daniel, Bermejo-Sánchez Eva, Balcells Susanna

Abstract excerpt

BACKGROUND: Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypotonia, and heart and eye malformations. Although loss of function (LoF) mutations were initially reported as causing this disorder, missense mutations, to date always involving...

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Identifiers

PMID: 32041641
DOI: 10.1186/s13023-020-1317-9
PMCID: PMC7011274

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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