1. Department of Ophthalmology, Renmin Hospital of Wuhan University, Wuhan 430060, China; 2. Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi 445000, China
Objective To identify the pathogenic cause of familial congenital aniridia by mutation screening of the paired box 6 (PAX6) gene. Methods All participants in this experimental study, including the available family members of the recruited family and 100 unrelated healthy controls, received comprehensive ophthalmic examinations. Genomic DNA was extracted from peripheral blood. Mutation screening of 11 coding exons (exon 4 through exon 14) of PAX6 and the adjacent splicing junctions was performed by Sanger sequencing. Co-segregation analysis for the available family members and the normal controls were conducted later. Results A novel heterozygous deletion/insertion mutation c.569_570delinsACGG (p.Ile190Asnfs*18) in exon 8 of PAX6 was identified in the congenital aniridia family. This mutation consistently co-segregated with the affected family members and was not detected in the normal family members or in the 100 normal controls. Three in eight family members were diagnosed with congenital aniridia by comprehensive eye examinations. The patients with aniridia also had complications with heterogenic ocular manifestations, including keratopathy, different types of cataracts, macular dysplasia, mild ptosis, and mild horizontal nystagmus. Conclusion A novel PAX6 deletion/insertion mutation c.569_570delinsACGG (p.Ile190Asnfs*18) in exon 8 was the pathogenic mutation of the family and was associated with congenital aniridia. The finding expands the mutation spectrum of PAX6 in congenital aniridia.
邢怡桥,李印,李拓,李家璋,杨琳. 先天性无虹膜家系中发现PAX6基因新的致病突变[J]. 中华眼视光学与视觉科学杂志, 2017, 19(4): 219-224.
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