An additional 115 PPROM cases and 191 controls were subsequently genotyped for the DEFB1 nonsense mutation, yielding more nonsense mutations in PPROM cases, including a neonate with a homozygous DEFB1 nonsense variant, and only one mutant allele in a term control (Table 4). The gene discussed is DEFB1; the disease is preterm premature rupture of the membranes.