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Diseases

Genetic and Rare Diseases Information Center (GARD)

Waardenburg syndrome type 2


Other Names for this Disease
  • WS 2
  • WS type 2
Related Diseases
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Tests & Diagnosis

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How are Waardenburg syndrome type 2 and its subtypes diagnosed?

Waardenburg syndrome type 2 (WS2) is diagnosed by the presence of 2 of the 5 major criteria needed for a general diagnosis of Waardenburg syndrome, with no dystopia canthorum (lateral displacement of the inner canthi of the eyes).[1]

In contrast to the general diagnosis of WS2, made based on symptoms, the diagnosis of a subtype of WS2 relies on identifying the genetic cause of WS2. For some subtypes, the general location (locus) of the responsible gene is known, but the specific responsible gene has not yet been identified. There are currently 5 subtypes of WS2:
  • Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3[2]
  • Type 2B is associated with a locus on chromosome 1[3]
  • Type 2C is associated with a locus on chromosome 8[4]
  • Type 2D is caused by mutations is the SNAI2 gene on chromosome 8[5]
  • Type 2E is caused by mutations in the SOX10 gene on chromosome 22[6]
Last updated: 6/28/2016

References
  1. Chen Y, Yang F, Zheng H, Zhou J, Zhu G, Hu P4, Wu W. Clinical and genetic investigation of families with type II Waardenburg syndrome. Mol Med Rep. March, 2016; 13(3):1983-1988.
  2. Cassandra L. Kniffin. WAARDENBURG SYNDROME, TYPE 2A; WS2A. OMIM. May 24, 2016; http://omim.org/entry/193510.
  3. Cassandra L. Kniffin. WAARDENBURG SYNDROME, TYPE 2B; WS2B. OMIM. March 15, 2010; http://www.omim.org/entry/600193?search=waardenburg%20type%202b&highlight=type%202b%20waardenburg.
  4. Cassandra L. Kniffin. WAARDENBURG SYNDROME, TYPE 2C; WS2C. OMIM. March 15, 2010; http://omim.org/entry/606662.
  5. Carol A. Bocchini. WAARDENBURG SYNDROME, TYPE 2D; WS2D. OMIM. January 21, 2015; http://omim.org/entry/608890.
  6. Cassandra L. Kniffin. WAARDENBURG SYNDROME, TYPE 2E; WS2E. OMIM. May 24, 2016; http://omim.org/entry/611584.


Other Names for this Disease
  • WS 2
  • WS type 2
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.