Mutation Analysis Of The PAX 6 Gene In A Chinese Family

Objective To identify the mutation of the PAX 6 gene in a Chinese family with autosomal dominant hereditary congenital aniridia (AN)Methods A congenital aniridia family was collected, three generations of 13 members, including 3 patients (1 patient had died) and 10 unaffected, then the pedigree was drawn and the clinical characteristics were analyzed. Ophthalmologic examinations were performed, including determination of best-corrected visual acuity, cornea, iris lens, fundus, corner, intraocular pressure and so on. Informed consent was obtained for every subject, and, genomic DNA from peripheral blood of the AN patients, the relatives of the AN family and the 80 normal controls were extracted. The exons contain from exon 4 to exon 13 and the flanking introns of the PAX 6 gene were amplified by PCR and sequenced bi-directionally. The sequencing results were analyzed by DNAStar software.Results 1) The clinical characteristics of patients’iris which were completely or partially absence by slit lamp microscope conform to the diagnosis of congenital aniridia; 2) Genetic characteristics of the family from one generation to the next were passed directly and continuously, and equal prevalence between men and women agree with autosomal dominant genetic disease; 3) A heterozygous c.949 C>T transition not detected in the unrelated control members and unaffected relatives in the exon 11 of PAX 6 was detected, which resulted in the substitution of a termination codon for a highly conserved arginine codon (P.R 317 X).Conclusion The heterozygous mutation (c.949 C> T) of the PAX 6 gene is the pathogenic cause of the AN family.