Defects in node cilia dynein arms may affect the nodal flow and result in randomization of left–right body asymmetry in zebrafish and human patients (Loges et al. 2009; Mitchison et al. 2012; Kosaki et al. 2004); (3) patients with mutation in DNAAF1 in our study were affected by NTDs; (4) extremely rare mutations were identified in 2.41% (nine of 373) of Chinese NTD patients, and the two dissected ones clearly introduce loss-of-function; and (5) DNAAF1 mutants alter the expression of NTC-related genes and left–right patterning genes. The gene discussed is DNAAF1; the disease is neural tube defect.