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

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

Abstract 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...

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Main Authors: Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
KAT6A
Neurodevelopmental disease
Clinical genetics
Whole exome sequencing
Clinical characterization
Online Access:https://doi.org/10.1186/s13023-020-1317-9

Internet

https://doi.org/10.1186/s13023-020-1317-9

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