In Family 1, targeted exon capture and sequencing of a ciliopathy panel of 121 genes, as previously reported [8, 11], identified a variant predicted to affect function in NPHP3 (NM_153240.3, c.3003del; p.(Phe1001Leufs*61)) in combination with a synonymous SNV (c.2154C>T; p.Phe718=). This evidence concerns the gene NPHP3 and ciliopathy.