Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
Nature GeneticsPublished 1 February 1994
Isabel M. Hanson, Judy Fletcher, Tim Jordan, Alison Brown, David Taylor, Rebecca Adams
Citations495
SJR quartileQ1
SJR score16.59
SNIP6.64
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TL;DR
It is proposed that a variety of anterior segment anomalies may be associated with PAX6 mutations, and a proportion of Sey/+ Smalleye mice, heterozygous for a nonsense mutation in murine Pax–6, have an ocular phenotype resembling Peters' anomaly.
Abstract
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.
Keywords
Biochemistry, Genetics and Molecular Biology
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