NEK8 and Renal cyst: Interestingly, we also identified a homozygous frameshift mutation (c.1010_1011del, p.G337Afs*16, family 6) in ANKS6 (S10 Fig) in a fetus whose phenotype was similar to that of NEK8 loss of function cases, i.e. enlarged cystic kidneys associated with enlarged fibrotic pancreas, situs inversus and cardiopathy.