Waardenburg syndrome: classification

Evidence-based neurology checklist on waardenburg syndrome: classification: WS1 This is caused by mutations in the PAX3 gene It has been reported with the EDNRB2 gene: case report of homozygosity WS2 WS3 WS4

WS1

  • This is caused by mutations in the PAX3 gene
  • It has been reported with the EDNRB2 gene: case report of homozygosity

WS2

WS3

WS4

References

  1. Bondurand N, Dastot-Le Moal F, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet 2007; 81:1169-1185.
  2. Chen Y, Yang F, Zheng H, et al. Clinical and genetic investigation of families with type II Waardenburg syndrome. Mol Med Rep 2016; 13:1983-1988.
  3. Chen H, Jiang L, Xie Z, et al. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem Biophys Res Commun 2010; 397:70-74.
  4. Morimoto N, Mutai H, Namba K, Kaneko H, Kosaki R, Matsunaga T. Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1. Auris Nasus Larynx 2018; 45:222-226.
  5. Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A. Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. Am J Med Genet A 2018; 176:1968-1971.
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