Screening The Mutation Of PAX6Gene In A Chinese Family With Autosomal Dominant Hereditary Congenital Aniridia

Objective Screening the PAX6gene in a Chinese family with autosomal dominanthereditary congenital aniridia, to determine the disease-causing gene and explorepathogenesis.Methods A congenital aniridia family that total16members were recruited,5wereaffected,11unaffeced. The congenital aniridia patients were undergone opthalmicexamination, including optometry, slit-lamp, fundus examination, intraocular pressure,perimetry, and gonioscopy. then, drew the pedigree and analysed the clinicalcharacteristics. Genomic DNA was extracted from the peripheral blood of the affectedand unaffected members of the family, and the100normal controls in the context ofconsent. The exons and the flanking introns of the PAX6gene were amplified by thepolymerase chain reaction (PCR). The mutation of PAX6gene was screened by directsequencing of PCR products. The sequencing results were analyzed by DNAStarsoftware.Results1) The clinical characteristics of iris which was completely or partially deletedof the whole patients Comply with the diagnosis of congenital aniridia. The geneticcharacteristics of the family including transmission from one generation to the nextdirectly and continuously, equal prevalence between men and women agree with theautosomal dominant genetic disease2) A heterozygous mutation (IVS9-1G>A) at theboundary of intron9and exon10was detected in this family. It was not detected in theuaffected relatives and unrelated controls.Conclusions IVS9-1G>A splicing mutation of PAX6may cause the protein truncated, it may cause congenital aniridia in the family. It is the first report about the mutation ina Chinese family and is significant for genetic counseling of congenital aniridia.