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Epigenetic Developmental Disorders: CHARGE Syndrome, a Case Study

  • Neurogenetics and Psychiatric Genetics (M Hiltunen & DR Marenda, Section Editors)
  • Published:
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Abstract

Epigenetic events including chromatin remodeling and histone modifications have recently emerged as important contributors to a variety of neurodevelopmental disorders. This review focuses on CHARGE syndrome, a multiple anomaly condition caused by mutations in the gene encoding CHD7, an ATP-dependent chromatin remodeling protein. CHD7 exhibits pleiotropic effects during embryonic development, consistent with highly variable clinical features in CHARGE syndrome. In this review, a historical description of CHARGE is provided, followed by establishment of diagnostic criteria, gene discovery, and development of animal models. Current understanding of epigenetic CHD7 functions and interacting proteins in cells and tissues is also presented, and final emphasis is placed on challenges and major questions to be answered with ongoing research efforts.

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Acknowledgments

DM Martin is supported by NIH R01-DC009410 and The University of Michigan Donita B. Sullivan MD Research Professorship Funds. She also serves as Chair of the Scientific Advisory Board of the CHARGE Syndrome Foundation. She receives reimbursement for travel to board meetings 1–2 times per year. She also received funds to support a local research symposium on chromatin and development.

Disclosure

DM Martin declares no conflicts of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

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Authors and Affiliations

  1. Department of Human Genetics, The University of Michigan Medical School, 3520A MSRBI, 1150 West Medical Center Drive, SPC 5652, Ann Arbor, MI, 48109-5652, USA

    Donna M. Martin

  2. Department of Pediatrics and Communicable Diseases, The University of Michigan Medical School, 3520A MSRBI, 1150 West Medical Center Drive, SPC 5652, Ann Arbor, MI, 48109-5652, USA

    Donna M. Martin

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  1. Donna M. Martin
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Correspondence to Donna M. Martin.

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This article is part of the Topical Collection on Neurogenetics and Psychiatric Genetics.

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Martin, D.M. Epigenetic Developmental Disorders: CHARGE Syndrome, a Case Study. Curr Genet Med Rep 3, 1–7 (2015). https://doi.org/10.1007/s40142-014-0059-1

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