Intriguingly, however, heterozygous missense variants in the BTB domain of KCTD1, which encodes the closest human paralogue of KCTD15, cause SEN syndrome, which exhibits a partially overlapping phenotype including cutis aplasia of the scalp.19 20 This provided additional circumstantial support that the KCTD15 variant could be pathogenic in Family 1. Here, KCTD1 is linked to scalp-ear-nipple syndrome.