Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humans

@inproceedings{Docherty2015MutationsIN,
  title={Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humans},
  author={Louise E Docherty and Faisal Ibne Rezwan and Rebecca L Poole and Claire Louise Susan Turner and Emma C Kivuva and Eamonn R Maher and Sarah F. Smithson and Julian P. Hamilton-Shield and Michal Patalan and Maria Giżewska and Jaroslaw Peregud-Pogorzelski and J Beygo and Karin Buiting and Bernhard Horsthemke and Lukas Soellner and Matthias Begemann and Thomas Eggermann and Emma Louise Baple and Sahar Mansour and I Karen Temple and Deborah J G Mackay},
  booktitle={Nature communications},
  year={2015}
}
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… CONTINUE READING