Abstract
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.
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Tassabehji, M., Read, A., Newton, V. et al. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet 3, 26–30 (1993). https://doi.org/10.1038/ng0193-26
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DOI: https://doi.org/10.1038/ng0193-26
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