Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

• Published in: American journal of human genetics Vol. 89; no. 3; pp. 451 - 458
• Main Authors: Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 09.09.2011; Cell Press; Elsevier
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Base Sequence; Biological and medical sciences; Cell Line; Classical genetics, quantitative genetics, hybrids; Diseases of mother, fetus and pregnancy; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes, Recessive - genetics; Genetics of eukaryotes. Biological and molecular evolution; Genomic Imprinting - genetics; Genomic Imprinting - physiology; Genomics; Genotype & phenotype; Gynecology; Gynecology. Andrology. Obstetrics; Human; Humans; Hydatidiform Mole - genetics; Immunohistochemistry; Medical genetics; Medical sciences; Molecular and cellular biology; Molecular Sequence Data; Mutation; Mutation - genetics; Oocytes - metabolism; Oocytes - physiology; Pedigree; Pregnancy; Pregnancy. Fetus. Placenta; Proteins - genetics; Proteins - metabolism; Sequence Alignment; Sequence Analysis, DNA; Womens health; Human; Trophoblaste pathology; Pregnancy disorders; Hydatidiform mole; Family study; Regulator; Placenta diseases; Genomic imprinting; Placenta; Tumor; Genetics; Mutation; Oocyte

Familial biparental hydatidiform mole (FBHM) is the only known pure maternal-effect recessive inherited disorder in humans. Affected women, although developmentally normal themselves, suffer repeated pregnancy loss because of the development of the conceptus into a complete hydatidiform mole in whic...