The splice site disruptor variant c.652_2A>G indeed can lead to splicing change and has been reported in a large family with hearing loss characterised with an inner ear cartilage anomaly,28 boosting confidence that the novel de novo Col11A1 splicing disruptors might be the causative variants for C2 and C6 DDH offspring. This evidence concerns the gene COL11A1 and hearing loss disorder.