KIF7 and ciliopathy: The c.428delG (p.Arg143Lysfs*4) mutation was identified in heterozygous state in patient MD1, in trans to a nonsense mutation (Figure 1B), and in a patient G2 who is also heterozygous for a KIF7 (JBTS12) frameshift mutation and variants in three other known ciliopathy genes (Figure 1C) (Dafinger et al., 2011).