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

Louise E. Docherty, Faisal I. Rezwan, Rebecca L. Poole, Claire L. S. Turner, Emma Kivuva, Eamonn R. Maher, Sarah F. Smithson, Julian P. Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I. Karen Temple and Deborah J. G. Mackay ()
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Louise E. Docherty: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital
Faisal I. Rezwan: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital
Rebecca L. Poole: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital
Claire L. S. Turner: Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital
Emma Kivuva: Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital
Eamonn R. Maher: University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Addenbrooke’s Hospital
Sarah F. Smithson: University Hospitals Bristol
Julian P. Hamilton-Shield: School of Clinical Sciences, University of Bristol
Michal Patalan: Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University
Maria Gizewska: Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University
Jaroslaw Peregud-Pogorzelski: Pomeranian Medical University
Jasmin Beygo: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen
Karin Buiting: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen
Bernhard Horsthemke: Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen
Lukas Soellner: Institut für Humangenetik, University Hospital, RWTH Aachen
Matthias Begemann: Institut für Humangenetik, University Hospital, RWTH Aachen
Thomas Eggermann: Institut für Humangenetik, University Hospital, RWTH Aachen
Emma Baple: Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust
Sahar Mansour: St George’s Healthcare NHS Trust, University of London
I. Karen Temple: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital
Deborah J. G. Mackay: Academic Unit of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton General Hospital

Nature Communications, 2015, vol. 6, issue 1, 1-7

Abstract: 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.

Date: 2015
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DOI: 10.1038/ncomms9086

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