Article
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Genes - 7 Jan 2023
Bukvic Nenad, Chetta Massimiliano, Bagnulo Rosanna, Leotta Valentina, Pantaleo Antonino, Palumbo Orazio, Palumbo Pietro, Oro Maria, Rivieccio Maria, Laforgia Nicola, De Rinaldis Marta, Rosati Alessandra, Kerkhof Jennifer, Sadikovic Bekim, Resta Nicoletta
Abstract excerpt
Pathogenic variants in genes are involved in histone acetylation and deacetylation resulting in congenital anomalies, with most patients displaying a neurodevelopmental disorder and dysmorphism. Arboleda-Tham syndrome caused by pathogenic variants in KAT6A (Lysine Acetyltransferase 6A; OMIM 601408) has been recently described as a new neurodevelopmental disorder. Herein, we describe a patient characterized by...
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