| First Author | Tassabehji M | Year | 1993 |
| Journal | Nat Genet | Volume | 3 |
| Issue | 1 | Pages | 26-30 |
| PubMed ID | 8490648 | Mgi Jnum | J:26990 |
| Mgi Id | MGI:74410 | Doi | 10.1038/ng0193-26 |
| Citation | Tassabehji M, et al. (1993) Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet 3(1):26-30 |
| abstractText | Waardenburg syndrome (WS) is a combination of deafness and pigmentary disturbances, normally inherited as an autosomal dominant trait. The pathology involves neural crest derivatives, but WS is heterogeneous clinically and genetically. Some type I WS families show linkage with markers on distal 2q and in three cases the disease has been attributed to mutations in the PAX3 gene. PAX3 encodes a paired domain, a highly conserved octapeptide and probably also a paired-type homeodomain. Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone. The latter occurs in a family with probable type 2 WS, a clinical variant usually considered not to be allelic with type 1 WS. |
