The regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods for testing multiple genes simultaneously is a logical step for the implementation of diagnostics of these disorders.

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder / G.M. Squeo, B. Augello, V. Massa, D. Milani, E.A. Colombo, T. Mazza, S. Castellana, M. Piccione, S. Maitz, A. Petracca, P. Prontera, M. Accadia, M. Della Monica, M.C. Di Giacomo, D. Melis, A. Selicorni, S. Giglio, R. Fischetto, E. Di Fede, N. Malerba, M. Russo, M. Castori, C. Gervasini, G. Merla. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - (2020 Mar 13), p. jmedgenet-2019-106724. [Epub ahead of print] [10.1136/jmedgenet-2019-106724]

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

Massa, Valentina;Colombo, Elisa Adele;Di Fede, Elisabetta;Gervasini, Cristina;
2020-03-13

Abstract

The regulation of the chromatin state by epigenetic mechanisms plays a central role in gene expression, cell function, and maintenance of cell identity. Hereditary disorders of chromatin regulation are a group of conditions caused by abnormalities of the various components of the epigenetic machinery, namely writers, erasers, readers, and chromatin remodelers. Although neurological dysfunction is almost ubiquitous in these disorders, the constellation of additional features characterizing many of these genes and the emerging clinical overlap among them indicate the existence of a community of syndromes. The introduction of high-throughput next generation sequencing (NGS) methods for testing multiple genes simultaneously is a logical step for the implementation of diagnostics of these disorders.
Mendelian chromatin disorders; epigenetics; next generation sequencing
Settore MED/03 - Genetica Medica
Settore BIO/13 - Biologia Applicata
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/723422
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