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Masoumeh Fallahian, Neil J. Sebire, Philip M. Savage, Michael J. Seckl and Rosemary A. Fisher Mutations in NLRP7 and KHDC3L Confer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions Human Mutation 34

Version of Record online: 2 NOV 2012 | DOI: 10.1002/humu.22228

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This article describes two digynic triploid conceptions presenting with histopathological features of complete hydatidiform mole (CHM). Both were associated with familial recurrent hydatidiform mole (FRHM), a condition usually characterised by recurrent CHM of diploid biparental origin. Both cases carried mutations in genes associated with FRHM, the first in NLRP7 and the second in KHDC3L. This study demonstrates that the presence of mutations in either gene confers a molar phenotype on successive pregnancies irrespective of the genetic constitution of the conception.

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