Of these, 2 were de novo events: a 222-kb 12q21.32 duplication including the CEP290 gene whose mutations cause Bardet-Biedl syndrome (BBS14; OMIM #615991), but which was not associated with previously reported pathogenicity, and a 385-kb 6q27 duplication affecting only three non-coding RNAs found in a patient who inherited a second large CNV. Here, CEP290 is linked to Bardet-Biedl syndrome.