Table 1 of Wang, Mol Vis 2010; 16:1146-1153.

Table 1. Classification of Waardenburg syndrome.




Phenotypes

Types OMIM Inheritance 1 2 3 4 5 Genes or loci Reference
WS1 193500 AD + +/−* + - - PAX3 [8]
WS2     + +/−** - - -    
WS2A 193510 AD + + - - - MITF [9]
WS2B 600193 AD + + - - - 1p21-p13.3 [17]
WS2C 606662 AD + + - - - 8p23 [10]
WS2D 608890 AR + + - - - SNAI2 [11]
WS2E 611584 AD + + - - - SOX10 [12]
WS3 148820 AD or AR + + + + - PAX3 [13]
WS4     + + - - +    
WS4A 277580 AR or AD + +/− - - + EDNRB [14]
WS4B 613265 AR or AD + + - - + EDN3 [15]
WS4C 613266 AD + + - - + SOX10 [16]

Note: Phenotype 1: pigmentary disturbance of skin, hair and iris; Phenotype 2: Deafness; Phenotype 3: dystopia canthorum; Phenotype 4: upper limb abnormalities; Phenotype 5: aganglionic megacolon. The asterisk indicates presence in about 1/5 cases and the double asterisk indicates presence in about 3/4 cases.

Wang, Mol Vis 2010; 16:1146-1153. http://www.molvis.org/molvis/v16/a127

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