Purpose: To investigate the paired box gene 6 (PAX6) in three patients from southern China presenting with classic aniridia: two patients from two successive generations of one family and one sporadic patient.
Methods: All the available members from two successive generations of one family and one sporadic patient underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from leukocytes of peripheral blood collected from the two generations of family members, the sporadic patient and 100 unrelated control subjects from the same population. Exons 1-13 of the PAX6 gene were amplified by polymerase chain reaction (PCR) and sequenced directly. The ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, optical coherence tomography, and Pentacam and Goldmann perimetry.
Results: The three patients were affected with aniridia accompanied by microcornea, microphthalmia, and nystagmus. A heterozygous PAX6 frameshift mutation, c.891del A(p.Gln297HisfsX68) in exon 10, was identified in the affected individuals and not in any of the unaffected family members, including the unaffected family members of the proband patient's generation. One novel mutation, c.607C>T(Arg203X) in exon 8, was detected in the unrelated sporadic patient.
Conclusions: Although PAX6 gene mutations and polymorphisms have been reported from various ethnic groups, we report for the first time the identification of two new PAX6 gene mutations in Chinese aniridia patients.