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Related Experiment Video

Updated: May 7, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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MSX1 mutation in witkop syndrome; a case report.

Faezeh Ghaderi1, Somaye Hekmat, Reza Ghaderi

  • 1Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran;

Iranian Journal of Medical Sciences
|September 14, 2013
PubMed
Summary

Witkop syndrome, a rare genetic disorder, causes tooth and nail abnormalities. This case report details a boy with early tooth loss and nail dysplasia, linked to a novel MSX1 gene mutation.

Keywords:
MSX1Nail dysplasiaWitkop syndrome

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Area of Science:

  • Genetics
  • Oral and Maxillofacial Medicine
  • Dermatology

Background:

  • Witkop syndrome is a rare autosomal dominant disorder.
  • It is characterized by ectodermal dysplasia, specifically affecting teeth and nails.

Observation:

  • A 2.5-year-old boy presented with early primary canine exfoliation, primary incisor absence, and nail dysplasia.
  • This represents the first reported case of this specific genetic tooth and nail syndrome in such a young child.

Findings:

  • A homozygous mutation was identified in the 3'-untranslated region (3'-UTR) of the MSX1 gene in the affected child.
  • The patient's parents, who did not exhibit dental or nail anomalies, were heterozygous carriers or unaffected.

Implications:

  • This finding expands the known spectrum of MSX1 gene mutations associated with ectodermal disorders.
  • Highlights the importance of genetic analysis in diagnosing rare syndromes with complex phenotypes.
  • Further research into MSX1 gene function in tooth and nail development is warranted.