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Fig. 3 | Human Genomics

Fig. 3

From: Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Fig. 3

Verification and negative effect of the variants in CEP290. a PCR sequencing confirmed a c.5953G>T [p.E1985*] mutation in this family. b c.5953G>T [p.E1985*] in CEP290 resulted in the loss-of-function of CEP290 protein due to lose numbers of functional domains. c Genomic qPCR revealed that father and the siblings only had relative half-fold copy for exon 1, exon 2, exon 6, exon 7, exon 10, and equivalent copy of exon 11 to mother. d qPCR showed significant decrease of CEP290 expression in the two siblings compared to their parents. All the values are means ± SEM from three independent experiments, and statistical analysis was performed by one-way ANOVA. **P < 0.01, ***P < 0.001

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