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From ectodermal dysplasia to selective tooth agenesis†

  1. Gabriele I. Mues1,
  2. Rachel Griggs2,
  3. Andrew J. Hartung2,
  4. Greg Whelan3,
  5. Lyle G. Best4,
  6. Anand K. Srivastava2,*,
  7. Rena D'Souza1,*

Article first published online: 5 JUN 2009

DOI: 10.1002/ajmg.a.32801

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias

Volume 149A, Issue 9, pages 2037–2041, September 2009

Additional Information

How to Cite

Mues, G. I., Griggs, R., Hartung, A. J., Whelan, G., Best, L. G., Srivastava, A. K. and D'Souza, R. (2009), From ectodermal dysplasia to selective tooth agenesis. American Journal of Medical Genetics Part A, 149A: 2037–2041. doi: 10.1002/ajmg.a.32801

Author Information

  1. 1

    Department of Biomedical Sciences, Texas A&M Health Science Center, Baylor College of Dentistry, Dallas, Texas 75246

  2. 2

    J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina

  3. 3

    Phoenix Indian Medical Center, Dental Clinic, Phoenix, Arizona

  4. 4

    Department of Family Practice, University of North Dakota, Grand Forks, North Dakota

*J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646.

  1. †

    How to cite this article: Mues GI, Griggs R, Hartung AJ, Whelan G, Best LG, Srivastava AK, D'Souza R. 2009. From ectodermal dysplasia to selective tooth agenesis. Am J Med Genet Part A 149A:2037–2041.

Publication History

  1. Issue published online: 20 AUG 2009
  2. Article first published online: 5 JUN 2009
  3. Manuscript Accepted: 6 FEB 2009
  4. Manuscript Received: 14 OCT 2008

Funded by

  • South Carolina Department of Disabilities and Special Needs (SCDDSN)

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Keywords:

  • hypohidrotic ectodermal dysplasia;
  • selective tooth agenesis;
  • EDA gene;
  • genotype/phenotype relationship

Abstract

The history and the lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for the unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes (HED) can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene (EDA) can lead to different phenotypes (HED and selective tooth agenesis) and that mutations in genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly (incontinentia pigmenti (IP) and HED with immunodeficiency). But it also demonstrates that diligent phenotype characterization and classification is extremely helpful in uncovering the underlying genotype. We also present a new mutation in the EDA gene which causes selective tooth agenesis and demonstrates the phenotype variation that can be encountered in the ectodermal dysplasia syndrome (HED) with the highest prevalence worldwide. © 2009 Wiley-Liss, Inc.

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