A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia.

Abstract

BACKGROUND:

Many mutations in PAX6, a member of a family of genes essential for normal development, have been described. We carried out a study to identify the mutation in PAX6 responsible for aniridia, an autosomal dominant disorder, in a kindred from Atlantic Canada.

METHODS:

Polymerase chain reaction amplification of coding exons, single-strand conformation polymorphism analysis and DNA sequencing.

RESULTS:

A novel deletion of an adenosine residue at position 1030 (1030delA) was detected.

INTERPRETATION:

The mutation responsible for aniridia in this kindred is expected to cause a frameshift in the PAX6 coding sequence and truncation of the homeodomain, which is essential for the function of the pax6 protein.

• Authors: S K Gupta, A Orr, D Bulman, I De Becker, D L Guernsey, P E Neumann
• Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie (Can J Ophthalmol) Vol. 34 Issue 6 Pg. 330-4 (Oct 1999) ISSN: 0008-4182 [Print] England
• PMID: 10604054 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Primers
• DNA-Binding Proteins
• Eye Proteins
• Homeodomain Proteins
• PAX6 Transcription Factor
• PAX6 protein, human
• Paired Box Transcription Factors
• Repressor Proteins
• DNA

Topics

• Adult
• Aniridia (genetics)
• Canada
• Child
• DNA (analysis)
• DNA Mutational Analysis
• DNA Primers (chemistry)
• DNA-Binding Proteins (genetics)
• Exons
• Eye Proteins (genetics)
• Female
• Frameshift Mutation
• Homeodomain Proteins (genetics)
• Humans
• Male
• PAX6 Transcription Factor
• Paired Box Transcription Factors
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Repressor Proteins