To date, deletions of exons 8–9, exon 9, and exon 31 of BBS9 have been identified in probands with BBS.14,15 Our study extends the BBS9 mutation landscape to now include a 72.8 kb deletion of exons 1–4 and the neighboring RP9. The gene discussed is BBS9; the disease is Bardet-Biedl syndrome.