Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting

• Published in: PLoS genetics Vol. 11; no. 11; p. e1005644
• Main Authors: Sanchez-Delgado, Marta, Martin-Trujillo, Alejandro, Tayama, Chiharu, Vidal, Enrique, Esteller, Manel, Iglesias-Platas, Isabel, Deo, Nandita, Barney, Olivia, Maclean, Ken, Hata, Kenichiro, Nakabayashi, Kazuhiko, Fisher, Rosemary, Monk, David
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.11.2015; Public Library of Science (PLoS)
• Subjects: Adaptor Proteins, Signal Transducing - genetics; ADN; Alleles; Analysis; Biomedical research; Biopsy; Defects; Deoxyribonucleic acid; DNA; DNA Methylation; Embaràs; Epigenetics; Female; Gene mutations; Genes; Genetic testing; Genome-wide association studies; Genomes; Genomic Imprinting; Genomics; Genòmica; Humans; Hydatidiform mole; Hydatidiform Mole - genetics; Methylation; Metilació; Mola hidatídica; Mutació (Biologia); Mutation; Mutation (Biology); Placenta; Placenta - metabolism; Pregnancy; Sperm; United Kingdom

Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid...