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Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology

  • Reproductive and Developmental Genetics (Z Urban and B Pober, Section Editors)
  • Published:
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Abstract

Cornelia de Lange syndrome (CdLS) is a rare multiple malformation syndrome including small stature, distinctive craniofacial features, limb anomalies, neurodevelopmental and behavioral abnormalities, and other organ system pathology. Recent literature has demonstrated that typical CdLS and related overlapping disorders display a broad range of severity and pleiotropy, suggesting that considering these diagnoses as a spectrum may be more appropriate. A molecular basis has been identified in many individuals, with mutations in five genes primarily responsible. These genes encode structural or regulatory proteins of the cohesin protein complex, important in chromatid division, cell cycle function, DNA repair, and epigenetic control. This review summarizes clinical findings, current management recommendations, and recent advances in understanding the underlying biologic mechanisms of these overlapping disorders of cohesin pathology.

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Acknowledgments

We acknowledge the Cornelia de Lange Syndrome Foundation’s stellar role in facilitating interactions between families and professionals. This work has been supported by a grant from the Doris Duke Charitable Foundation Grant #:2012059 to MAD.

Disclosures

AD Kline and MA Deardorff both declare no conflicts of interest.

Human and Animal Rights and Informed Consent

All studies by AD Kline and MA Deardorff involving animal and/or human subjects were performed after approval by the appropriate Institutional Review Boards. When required, written informed consent was obtained from all participants.

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Authors and Affiliations

  1. Harvey Institute for Human Genetics, Greater Baltimore Medical Center, 6701 N. Charles St., Suite 2326, Baltimore, MD, 21204, USA

    Antonie D. Kline

  2. Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Blvd, Philadelphia, PA, 19104, USA

    Matthew A. Deardorff

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Correspondence to Antonie D. Kline.

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This article is part of the Topical Collection on Reproductive and Developmental Genetics.

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Kline, A.D., Deardorff, M.A. Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology. Curr Genet Med Rep 3, 74–81 (2015). https://doi.org/10.1007/s40142-015-0065-y

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