Chromatinopathies: a group of rare chromatin dysregulation human disorders: An update

Author's Information:

Kiran Kumar H. B.

Government Science College, Nrupathunga University, Nrupathunga Road, Bangalore-560001, India.

Poornima R.

Department of Biotechnology, Government Science College, Nrupathunga University, Nrupathunga Road, Bangalore-560001, India.

Vol 05 No 11 (2026):Volume 05 Issue 11 November 2026

Page No.: 782-806

Crossref DOI: https://doi.org/10.55677/ijlsar/V05I11Y2026-02 | Published: 04 November, 2026 | | Google Scholar | Google

Abstract:

Chromatinopathies are a group of rare monogenic neurodevelopmental disorders caused by chromatin dysregulation characterized by highly overlapping clinical traits. Under healthy conditions epigenetic marks including DNA methylation, histone post-translational modifications and ATP-dependent remodeling complexes act as molecular switches that modulate the chromatin structure during cellular differentiation and gene expression. Conversely, chromatin dysregulation leads to diverse pathological states such as cancer, neurological disorder, cardiovascular diseases, metabolic and inflammatory disease thus highlighting the importance of chromatin. Regardless of their distinct genetic cause, chromatinopathies pose significant challenges for clinicians due to their several clinical overlaps. The present review provides background literature on rare disorders, chromatin and epigenetics in normal and disease states. The next sections focuses on clinical overlaps, episignatures and chromatinoapthies. The current and therapeutic methods and future scope towards diagnostic biomarkers is described. Methods to uncover overlapping phenotypes, reclassification variants of uncertain significance and to gain insight into disease mechanism are discussed. Ultimately, integration of genome-wide DNA episignatures with machine learning algorithm to analyze the functional readout of sequence variants will lead to precision medicine a need for these disorders.

KeyWords:

chromatin modifiers; imprinting; Wiedemann-Steiner syndrome; Kleefstra syndrome; Selective IgA deficiency.

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