A new PAX6 mutation in familial aniridia.
Open Access
- 1 June 1995
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 32 (6) , 488-489
- https://doi.org/10.1136/jmg.32.6.488
Abstract
Aniridia (lack of iris) is caused by loss of function mutations in one copy of the PAX6 gene. Here we present a new PAX6 splice mutation in a family with autosomal dominant aniridia. The mutation is a single nucleotide change which, although occurring within an exon, affects the splice junction consensus and results in skipping of that exon.Keywords
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