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Fig. 4 | BMC Ophthalmology

Fig. 4

From: A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report

Fig. 4

Results of single nucleotide polymorphism (SNP) analysis revealed a PAX3 mutation in exon 2 on chromosome 2q35. An ACTCC deletion at c.91–95 caused a frameshift of protein Thr31. The SNP analysis was carried out according to the recommendations of the manufacturer (Applied Biosystems, CA, USA). Polymerase chain reaction products were prepared after optimization, amplification, and purification processes. The 96-capillary 3730xl DNA Analyzer (Applied Biosystems) was used for high-throughput SNP mapping and discovery. Combined Annotation Dependent Depletion (CADD) v1.4 was used to predict the pathogenicity of variants. The identified novel mutation was highly deleterious for PAX3 (CADD score = 34)

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