J Korean Ophthalmol Soc.  2008 Nov;49(11):1794-1800.

PAX6 Mutations and Clinical Features of Congenital Aniridia

• Kim JH
• Hwang BS
• Lee JH
• Cha SC

Abstract

PURPOSE
To report the PAX6 mutations and clinical features in Korean aniridia patients.
METHODS
Genomic DNA was isolated from 12 aniridia patients and 5 normal controls. The coding regions of the PAX6 gene were analyzed by direct sequencing of polymerase chain reaction products. The relationship between the mutational types and the ophthalmic findings from medical records was determined.
RESULTS
Mutation analysis demonstrated seven different types of mutations, five of which have not previously been reported. Notably, these mutations were confined to PD and LNK in the PAX6 gene. Although R44X and W156X were recurrent mutations, novel mutations included G18R, IVS6+1insG, A139P, A139A, and G141G. Glaucoma was found in five (42%, adult patients 30 years or older) of twelve patients, of whom four were male.
CONCLUSIONS
This is the first report to identify the PAX6 gene mutations in Korean aniridia patients. Our limited data show that glaucoma was more prevalent in male and adult patients. Moreover, a patient's age along with the PAX6 genotype might be a factor related to glaucoma in aniridia patients.

Keyword

Aniridia; Glaucoma; Mutation; PAX6 gene

MeSH Terms

Adult
Aniridia
Clinical Coding
DNA
Genotype
Glaucoma
Humans
Male
Medical Records
Polymerase Chain Reaction
DNA

Figure

• 

  Figure 1. Mutations of the PAX6 gene in patients. (A) A single guanine residue transversion to cytosine (c.414G>C (G18R) in exon 5). (B) A single cytosine residue transition to thymine (c.492C>T (R44X) in exon 5). (C) A single guanine residue insertion (IVS6+1insG in intron 6). (D) A single guanine residue transversion to cytosine (c.777G>C (A139P) in exon 7). (E) A single adenine residue transition to cytosine (c.779A>C (A139A) in exon 7). (F) A single cytosine residue transition to adenine (c.785C>A (G141G) in exon 7). (G) A single guanine residue transition to adenosine (c.830G>A (W156X) in exon 7).

Reference

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