SCIENTIFIC BACKGROUND

EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

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Scientific Background

Waardenburg syndrome (WS) is a rare autosomal dominant inherited, clinically and genetically heterogeneous disease. The four clinically defined subtypes have pigmentation disorders of the skin and hair, often with a white forelock, heterochromia iridis, and sensorineural hearing loss, in common. The frequency is reported to be 1:40,000 in the general population. Waardenburg syndrome is thought to be present in 3% of all patients with sensorineural hearing loss.

 

WS1 and WS2 are the most common forms. They are distinguished by telecanthus and synophris, which do not occur in WS2. WS3 is also known as Waardenburg-Klein syndrome and has upper extremity malformations as an additional main symptom. WS4 or Waardenburg-Shah syndrome shows pigmentation abnormalities and hearing loss in addition to Hirschsprung disease.

 

The symptoms are caused by differentiation disorders of embryonic cells of the neural crest. The genes known to be causative genes are also involved in the development of the neural crest, the inner ear and the migration of melanocytes.

 

References

Bocángel et al. 2018, Eur J Med Genet 61:348 / Song et al. 2016 Clin Genet 89:416 / Sun et al 2016, Sci Rep 6:35498 / Yang et al. 2013, PLoS One 8: e77149 / Pingault et al. 2010, Hum Mut 31:1 / Pardono et al. 2003, Am J Med Genet 117A:22 / Read & Newton 1997, J Med Genet 34:656

GENES

EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

ASSOCIATED TESTS

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