Waardenburg syndrome type 2
- WS 2
- WS type 2
Tests & Diagnosis
Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family. In some subtypes, the genetic cause is a known gene. In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known. There are five different subtypes:
- Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3
- Type 2B is associated with a locus on chromosome 1
- Type 2C is associated with a locus on chromosome 8
- Type 2D is caused by mutations is the SNAI2 gene on chromosome 8
- Type 2E is caused by mutations in the SOX10 gene on chromosome 22 
- Waardenburg syndrome, Type 2A. OMIM. March 15, 2010; http://www.ncbi.nlm.nih.gov/omim/193510. Accessed 4/17/2011.
- Liu XZ, Newton VE, Read AP. Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am J Med Genet. 1995; 55:95. http://www.ncbi.nlm.nih.gov/pubmed/7702105. Accessed 4/17/2011.