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        Genomics Precision Diagnostic > Ear, Nose, Throat Precision Panel > Waardenburg Syndrome Precision Panel

        Waardenburg Syndrome Precision Panel

        Waardenburg Syndrome (WS) is a genetic disorder characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, blue eyes (heterochromia irides), and sensorineural hearing loss.
        Overview
        Indication
        Clinical Utility
        Genes & Diseases
        Methodology
        References

        Overview

        • Waardenburg Syndrome (WS) is a genetic disorder characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, blue eyes (heterochromia irides), and sensorineural hearing loss. It also presents with other clinical features involving musculoskeletal abnormalities, gastrointestinal malformations and neurological defects. WS is considered a defect in the melanocyte and neural crest development, where a complex interconnecting regulatory network of genes work in synergism for an appropriate development of melanocytes. It is typically inherited in an autosomal dominant pattern.  

        • The Igenomix Waardenburg Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of hearing loss ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

        Indication

        • The Igenomix Waardenburg Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
          • Cleft lip 
          • Constipation 
          • Deafness 
          • Extremely pale blue eyes or nonmatching eye colors
          • Pale color skin, hair and eyes 
          • Decreased intellectual function 

        Clinical Utility

        The clinical utility of this panel is: 

        • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
        • Early initiation of treatment with a multidisciplinary team in the form of hearing aids and cochlear implants, social services and speech therapy.
        • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
        • Improvement of delineation of genotype-phenotype correlation. 
        • Unravel important developmental pathways in the neural crest and derivatives that could potentially lead to Waardenburg Syndrome.

        Genes & Diseases

        Methodology

        References

        See scientific referrals

        Pingault, V., Ente, D., Dastot-Le Moal, F., Goossens, M., Marlin, S., & Bondurand, N. (2010). Review and update of mutations causing Waardenburg syndrome. Human mutation, 31(4), 391–406. https://doi.org/10.1002/humu.21211 

        Saleem M. D. (2019). Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. Pediatric dermatology, 36(1), 72–84. https://doi.org/10.1111/pde.13713 

        Ren, S., Chen, X., Kong, X., Chen, Y., Wu, Q., Jiao, Z., & Shi, H. (2020). Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing. Molecular Genetics & Genomic Medicine, 8(3). doi: 10.1002/mgg3.1128 

        Read, A. P., & Newton, V. E. (1997). Waardenburg syndrome. Journal of medical genetics, 34(8), 656–665. https://doi.org/10.1136/jmg.34.8.656 

        Tagra, S., Talwar, A. K., Walia, R. L., & Sidhu, P. (2006). Waardenburg syndrome. Indian journal of dermatology, venereology and leprology, 72(4), 326. https://doi.org/10.4103/0378-6323.26718 

        Ringer J. (2019). Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners, 33(6), 694–701. https://doi.org/10.1016/j.pedhc.2019.06.001 

        Minami, S. B., Nara, K., Mutai, H., Morimoto, N., Sakamoto, H., Takiguchi, T., Kaga, K., & Matsunaga, T. (2019). A clinical and genetic study of 16 Japanese families with Waardenburg syndrome. Gene, 704, 86–90. https://doi.org/10.1016/j.gene.2019.04.023 

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