This variant has previously been published in association with BBS and proven to cause aberrant splicing in vitro by minigene assay.29 The other two are at +3 and +5 positions in probands #75 (BBS4 NM_033028.5:c.642+3A>T) and #41 (CSPP1 NM_001382391.1:c.2968+5G>A). The gene discussed is CSPP1; the disease is Bardet-Biedl syndrome.