期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms9086
关键词
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资金
- Medical Research Council [MR/J000329/1]
- Bundesministerium fur Bildung und Forschung [01GM1513A, 01GM1513C]
- Ipsen Fellowship Grant
- National Institutes of Health [R01 AI091905-01, R01 AI061471, R01 HL082925]
- Action Medical Research
- Newlife Foundation for Disabled Children
- Wessex NIHR clinical research network
- NIHR Wellcome Southampton clinical research facility
- MRC [MR/J000329/1] Funding Source: UKRI
- Medical Research Council [MR/J000329/1] Funding Source: researchfish
- National Institute for Health Research [PB-PG-1111-26003] Funding Source: researchfish
- National Institutes of Health Research (NIHR) [PB-PG-1111-26003] Funding Source: National Institutes of Health Research (NIHR)
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.
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