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

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    URI
    http://hdl.handle.net/11287/593987
    Author
    Docherty, L. E.
    Rezwan, F. I.
    Poole, R. L.
    Turner, Claire L.
    Kivuva, Emma
    Maher, E. R.
    Smithson, S. F.
    Hamilton-Shield, J. P.
    Patalan, M.
    Gizewska, M.
    Peregud-Pogorzelski, J.
    Beygo, J.
    Buiting, K.
    Horsthemke, B.
    Soellner, L.
    Begemann, M.
    Eggermann, T.
    Baple, E.
    Mansour, S.
    Temple, I. K.
    Mackay, D. J.
    Date
    2015-09-01
    Journal
    Nature communications
    Type
    Journal Article
    Research Support, N.I.H., Extramural
    Research Support, Non-U.S. Gov't
    Publisher
    Nature
    DOI
    10.1038/ncomms9086
    Metadata
    Show full item record
    Abstract
    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.
    Citation
    Nat Commun. 2015 Sep 1;6:8086.
    Publisher URL
    http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26323243/
    Note
    This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
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    • 2015 RD&E publications
    • Genetics and genomics

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