Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

@article{Parry2011MutationsCF,
  title={Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.},
  author={David A Parry and Clare V Logan and Bruce E. Hayward and Michael Shires and Han{\`e}ne Landolsi and Christine P Diggle and Ian Carr and C{\'e}cile Rittore and Isabelle Touitou and Laurent Philibert and Rosemary Ann Fisher and Masoumeh Fallahian and John Huntriss and Helen M. Picton and Saghira Malik and G. R. Taylor and Colin A. Johnson and David T. Bonthron and Eamonn G. Sheridan},
  journal={American journal of human genetics},
  year={2011},
  volume={89 3},
  pages={451-8}
}
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 which extraembryonic trophoblastic tissue develops but the embryo itself suffers early demise. This developmental phenotype results from a genome-wide failure to correctly specify or maintain a maternal… CONTINUE READING