Article
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2024
van der Laan Liselot, Karimi Karim, Rooney Kathleen, Lauffer Peter, McConkey Haley, Caro Pilar, Relator Raissa, Levy Michael A, Bhai Pratibha, Mignot Cyril, Keren Boris, Briuglia Silvana, Sobering Andrew K, Li Dong, Vissers Lisenka E L M, Dingemans Alexander J M, Valenzuela Irene, Verberne Eline A, Misra-Isrie Mala, Zwijnenburg Petra J G, Waisfisz Quinten, Alders Mariëlle, Sailer Sebastian, Schaaf Christian P, Mannens Marcel M A M, Sadikovic Bekim, van Haelst Mieke M, Henneman Peter
Abstract excerpt
PURPOSE: Hao-Fountain syndrome (HAFOUS) is a neurodevelopmental disorder caused by pathogenic variants in USP7. HAFOUS is characterized by developmental delay, intellectual disability, speech delay, behavioral abnormalities, autism spectrum disorder, seizures, hypogonadism, and mild dysmorphic features. We investigated the phenotype of 18 participants with HAFOUS and performed DNA methylation (DNAm) analysis,...
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