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Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome. Some imprinting disorders have higher than expected prevalence of monozygotic twinning, of assisted reproductive technology among parents, and of disturbance of multiple imprinted loci, for which few causative  trans -acting mutations have been found. Here we report mutations in  NLRP5  in five mothers of individuals affected by multilocus imprinting disturbance. Maternal-effect mutations of other human NLRP genes,  NLRP7  and  NLRP2 , cause familial biparental hydatidiform mole and multilocus imprinting disturbance, respectively. Offspring of mothers with  NLRP5  mutations have heterogenous clinical and epigenetic features, but cases include a discordant monozygotic twin pair, individuals with idiopathic developmental delay and autism, and families affected by infertility and reproductive wastage.  NLRP5  mutations suggest connections between maternal reproductive fitness, early zygotic development and genomic imprinting.

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans