ACSM1 and familial primary pulmonary hypoplasia: Taken together, these data suggest that the 7q36.3 SV here identified creates two neo-TADs, thus allowing ectopic MACS1 contact with MNX1 and NOM1 promoters in lung tissue, with a likely blocking effect on the WNT signaling pathway, resulting in absent development of primary air cells and eventually leading to the bilateral lung agenesis observed in the three fetuses.