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© 1994 Oxford University Press

OTHER

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

M. Tassabehjl, V. E. Newton1, K. Leverton, K. Turnbull, E. Seemanova2, J. Kunze3, K. Sperling3, T. Strachan and A. P. Read*

Department of Medical Genetics, St Mary's Hospital Manchester M13 OJH, Manchester, UK 1Centre for Audiology, University of Manchester Manchester, UK 2Department of Clinical Genetics, Charles University Prague, Czech Republic 3Institut fur Humangenetik, Free University of Berlin Germany

*To whom correspondence should be addressed

Received February 11, 1994; Revised April 22, 1994; Accepted April 22, 1994

The human PAX3 gene contains a paired box and a paired-type homeobox, and is believed to play a role in pattern formation in the embryo. We describe the exon–intron structure of the homeobox-containing part of PAX3, complementing earlier descriptions of the 5' part of the gene. Mutations in PAX3 have been described in patients with Type 1 Waardenburg syndrome, who have hearing loss and pigmentary abnormalities, while Splotch mice have mutations in the homologous mouse Pax-3 gene. We describe a series of patients who have previously unidentified PAX3 mutations. These include a chromosomal deletion, a splice-site mutation and an amino acid substitution which closely correspond to the molecular changes seen in the Splotch-retarded, Splotch and Splotch-delayed mouse mutants respectively. These mutations confirm that Waardenburg syndrome is produced by gene dosage effects and show that the phenotypic differences between Splotch mice and humans with Waardenburg syndrome are caused by differences in genetic background rather than different primary effects of the mutations.


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