[A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.].

Abstract

To study the molecular genetic mechanism of hereditary congenital aniridia, the entire coding exons (exon 4-13) of PAX6 gene and the flanking exon-intron junctions were amplified through PCR from the genomic DNA of all the two patients in a Chinese family with aniridia. PCR products were purified from agarose gel and sequenced. In both patients, a novel deletion mutation (c. 1286delC) in exon 11 was identified. Compared with the normal product of PAX6 gene, this mutation caused frame shifting, and generated a novel 55 amino acid peptide from codon 309. This deletion also resulted in a premature termination codon (PTC) and preterminated peptide synthesis. Meanwhile, this mutation was absent in all the unaffected family members and 50 normal control individuals through PCR-RFLP.

• Authors: Da-Guang Sun, Ju-Hua Yang, Yi Tong, Guang-Jian Zhao, Xu Ma
• Journal: Yi chuan = Hereditas (Yi Chuan) Vol. 30 Issue 10 Pg. 1301-6 (Oct 2008) ISSN: 0253-9772 [Print] China
• PMID: 18930890 (Publication Type: Journal Article)

Chemical References

• Eye Proteins
• Homeodomain Proteins
• Paired Box Transcription Factors
• Repressor Proteins

Topics

• Aniridia
• Eye Proteins
• Homeodomain Proteins (genetics)
• Humans
• Mutation
• Paired Box Transcription Factors (genetics)
• Pedigree
• Repressor Proteins (genetics)