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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Aniridia / genetics*
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Chromosomes, Human, Pair 11
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DNA-Binding Proteins / genetics*
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Exons / genetics
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Eye Proteins
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Female
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Homeodomain Proteins*
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Humans
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Male
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Molecular Sequence Data
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PAX6 Transcription Factor
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Paired Box Transcription Factors
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Point Mutation / genetics*
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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RNA Splicing
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Repressor Proteins
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Sequence Analysis, DNA
Substances
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DNA-Binding Proteins
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Eye Proteins
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Homeodomain Proteins
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PAX6 Transcription Factor
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PAX6 protein, human
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Paired Box Transcription Factors
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Repressor Proteins