Detection Of PAX6Gene With Sequencing And MLPA In A Family With Congenital Aniridia

Objective:To use thetechnologyof multiplex ligation-dependent probe amplification(MLPA) for the molecular genetic diagnosis of a congenital aniridia genealogyMethods:To conduct a comprehensive eye examination on the participants in the research of a congenital aniridia disease family which include3patients,1non-patient and three age-matched normal controlled volunteers, and collect the patients’clinical data. All study participants are extracted blood for DNA. Theprobandwill be have PAX6gene exon sequenced, the scope of the sequencing including exons and exons and introns junction.2patients,1non-patient and three normal controlled subjects were used MLPA technology on PAX6genes and chromosomal regions near it by using the SALSA MLPA P219PAX6probemix kits.Result:There are defect part or all of the iris, accompanied with eyeball nystagmus in horizontal direction, intermittent exotropia, significantly reducedcorneal endothelial cells and loss of hexagonal shape, lens opacity, disappear foveal and thinner macular lutea in this ANC genealogy patients. Their visual function were severely damaged.There are no gene mutation foundedon PAX6gene exon and exons and introns junction of the proband. It is found that there are2patients who are lack of hybrid chromosomefragmentin PAX6gene from number 1intron to number5exon, but the non-patient family member were not found the lack of hybridchromosomefragment.The lack of hybrid led to the loss of translation initiation codon, resulting in insufficient PAX6protein haploid dose, resulting in congenital aniridia.Conclusion:This ANC genealogy had deficiency of part or all of the iris, as is often associated with the cornea, lens and macular degeneration, visual function is severely impaired.The missing of PAX6gene5’end of the hybrid chromosome fragment cause this congenital aniridia genealogy, it has not been reported.