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Genetics of Motility Disorder: Gastroesophageal Reflux, Triple A Syndrome, Hirschsprung Disease, and Chronic Intestinal Pseudo-Obstruction

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Pediatric Neurogastroenterology

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Abstract

The identification of gene mutations associated with a disease often provides important initial insight into its molecular basis and can hold the key to developing an effective therapeutic strategy. After several decades of identifying single gene mutations causing usually rare GI motility disorders, we are beginning to understand the etiology of complex, multigenic motility disorders. In this chapter we review the current genetic understanding of four motility disorders: gastroesophageal reflux disease, Triple A syndromic achalasia, Hirschsprung disease, and chronic intestinal pseudo obstruction. The molecular and developmental consequences of some of these mutations are described in detail in other chapters.

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Authors and Affiliations

  1. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Pediatrics Department, Center for Molecular and Human Genetics, The Research Institute at Nationwide Children’s Hospital, The Ohio State University College of Medicine, Columbus, OH, USA

    Jonathan M. Gisser M.D., M.Sc.

  2. Center for Molecular and Human Genetics, Nationwide Children’s Research Institute, 700 Children’s Drive, WA2015, Columbus, OH, 43205, USA

    Cheryl E. Gariepy M.D.

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  1. Jonathan M. Gisser M.D., M.Sc.
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  2. Cheryl E. Gariepy M.D.
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Correspondence to Cheryl E. Gariepy M.D. .

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Editors and Affiliations

  1. Sainte-Justine Hospital, Department of Pediatrics, Division of Pediatric Gastroenterology, Université de Montréal, Montreal, H3T 1C5, Québec, Canada

    Christophe Faure

  2. Nationwide Children's Hospital, Division of Pediatric Gastroenterology, The Ohio State University, Columbus, 43205, Ohio, USA

    Carlo Di Lorenzo

  3. Gastroenterology and Neural Development, University College London, Institute of Child Health, Great Ormond Street Hospital for Children, London, WC1N 1EH, United Kingdom

    Nikhil Thapar

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Gisser, J.M., Gariepy, C.E. (2013). Genetics of Motility Disorder: Gastroesophageal Reflux, Triple A Syndrome, Hirschsprung Disease, and Chronic Intestinal Pseudo-Obstruction. In: Faure, C., Di Lorenzo, C., Thapar, N. (eds) Pediatric Neurogastroenterology. Clinical Gastroenterology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-709-9_18

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  • DOI: https://doi.org/10.1007/978-1-60761-709-9_18

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