Nature Genetics
6, 168 - 173 (1994)
doi:10.1038/ng0294-168
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomalyIsabel M. Hanson1, Judy M. Fletcher1, Tim Jordan1, Alison Brown1, David Taylor2, Rebecca J. Adams3, Hope H. Punnett3
& Veronica van Heyningen1
1MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
2Department of Ophthalmology, Hospital for Sick Children, Great Ormond St, London WC1N 3JH, UK
3St Christopher's Hospital for Children, Erie Avenue at Front St, Philadelphia, Pennsylvania 19134, USA Correspondence should be addressed to V.v.H. Mutation or deletion of the PAX6 gene underlies many cases of aniridia. Three lines of evidence now converge to implicate PAX6 more widely in anterior segment malformations including Peters' anomaly. First, a child with Peters' anomaly is deleted for one copy of PAX6. Second, affected members of a family with dominantly inherited anterior segment malformations, including Peters' anomaly are heterozygous for an R26G mutation in the PAX6 paired box. Third, a proportion of Sey/+ Smalleye mice, heterozygous for a nonsense mutation in murine Pax−6, have an ocular phenotype resembling Peters' anomaly. We therefore propose that a variety of anterior segment anomalies may be associated with PAX6 mutations.
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