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Case Report Open Access

Association of Waardenburg syndrome with a new mutation in the PAX3 gene: A case report and literature review

  • Authors:
    • Juliana Zafiri
    • Elena Papageorgiou
    • Andreas Pampanos
    • Olympia Valla
    • Sotiris Sotiriou
    • Georgios K. Papaioannou
    • Alexandros Psarris
    • Eliza Siomou
    • Emmanouil Manolakos
  • View Affiliations / Copyright

    Affiliations: Access to Genome, Genetics Laboratory, 11528 Athens, Greece, Department of Genetics, Alexandra Regional General Hospital, 11528 Athens, Greece, Department of Embryology, Faculty of Medicine, School of Health Sciences, University of Thessally, 41334 Larisa, Greece, Third Department of Obstetrics and Gynecology, General University Hospital ‘Attikon’, 12462 Athens, Greece, First Department of Obstetrics and Gynecology, University of Athens Medical School, 11527 Athens, Greece
    Copyright: © Zafiri et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 189
    |
    Published online on: October 7, 2025
       https://doi.org/10.3892/br.2025.2067
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Abstract

The present case report focuses on Waardenburg syndrome (WS), which occurs with a frequency of 1/40,000 and is manifested by neurosensory deafness, pigmentation deficiencies of the skin, hair and iris of the eye, and various tissue defects originating from the neural crest. WS is a genetically heterogeneous disease classified into four clinical and genetic phenotypes. In addition, it is caused by mutations in the following genes: Paired box 3 (PAX3), Endothelin 3, Endothelin Receptor Type B, Melanocyte Inducing Transcription Factor, Snail Family Transcriptional Repressor 2 and SRY‑Box Transcription Factor 10. The present study focuses mainly on the structure and function of the pax3 gene and describes the case of a 33‑year‑old male, in whom a thorough clinical evaluation of physical characteristics and a detailed patient and family history was performed prior to concluding that the patient had WS. To confirm the diagnosis, genetic counseling was recommended and molecular genetic testing using next generation sequencing (NGS) methods was suggested. NGS revealed a novel c.209G>A (p.Cys70Tyr) mutation in the PAX3 gene, suggesting that this method is beneficial for disease screening, genetic diagnosis and counseling. The purpose of the present report is to assess the novel PAX3 gene mutation and its association with WS by analyzing the data from the case and the existing international literature, and by presenting further documented clinical cases. The present study is important due to the discovery of a new mutation, which may contribute to the understanding of the correlation between genotypes and phenotypes, aiding the field of genetic counseling. In addition, the present research study may aid the identification of potential diagnostic and therapeutic approaches for WS.
View Figures

Figure 1

Clinical images of the case.
Photographic features of the patient's appearance showing area
pigmentary deficiencies of the hair, namely a white lock of hair in
the front-center of the head and white patches of skin in the
abdomen.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Zafiri J, Papageorgiou E, Pampanos A, Valla O, Sotiriou S, Papaioannou GK, Psarris A, Siomou E and Manolakos E: Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review. Biomed Rep 23: 189, 2025.
APA
Zafiri, J., Papageorgiou, E., Pampanos, A., Valla, O., Sotiriou, S., Papaioannou, G.K. ... Manolakos, E. (2025). Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review. Biomedical Reports, 23, 189. https://doi.org/10.3892/br.2025.2067
MLA
Zafiri, J., Papageorgiou, E., Pampanos, A., Valla, O., Sotiriou, S., Papaioannou, G. K., Psarris, A., Siomou, E., Manolakos, E."Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review". Biomedical Reports 23.6 (2025): 189.
Chicago
Zafiri, J., Papageorgiou, E., Pampanos, A., Valla, O., Sotiriou, S., Papaioannou, G. K., Psarris, A., Siomou, E., Manolakos, E."Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review". Biomedical Reports 23, no. 6 (2025): 189. https://doi.org/10.3892/br.2025.2067
Copy and paste a formatted citation
x
Spandidos Publications style
Zafiri J, Papageorgiou E, Pampanos A, Valla O, Sotiriou S, Papaioannou GK, Psarris A, Siomou E and Manolakos E: Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review. Biomed Rep 23: 189, 2025.
APA
Zafiri, J., Papageorgiou, E., Pampanos, A., Valla, O., Sotiriou, S., Papaioannou, G.K. ... Manolakos, E. (2025). Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review. Biomedical Reports, 23, 189. https://doi.org/10.3892/br.2025.2067
MLA
Zafiri, J., Papageorgiou, E., Pampanos, A., Valla, O., Sotiriou, S., Papaioannou, G. K., Psarris, A., Siomou, E., Manolakos, E."Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review". Biomedical Reports 23.6 (2025): 189.
Chicago
Zafiri, J., Papageorgiou, E., Pampanos, A., Valla, O., Sotiriou, S., Papaioannou, G. K., Psarris, A., Siomou, E., Manolakos, E."Association of Waardenburg syndrome with a new mutation in the <em>PAX3</em> gene: A case report and literature review". Biomedical Reports 23, no. 6 (2025): 189. https://doi.org/10.3892/br.2025.2067
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