Nature Genetics
1, 328 - 332 (1992)
doi:10.1038/ng0892-328
The human PAX6 gene is mutated in two patients with aniridiaTim Jordan1, Isabel Hanson1, Dmitri Zaletayev2, Shirley Hodgson3, Jane Prosser1, Anne Seawright1, Nicholas Hastie1
& Veronica van Heyningen1
1MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
2Institute of Medical Genetics, Academy of Medical Sciences, Moskvorechie St, 1, 115478, Moscow, CIS
3Division of Medical and Molecular Genetics, Guy's Hospital, St. Thomas Street, London, SE1 9RT, UK Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax−6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are predicted to affect protein function. Mutations in Pax−6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model.
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