Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human 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...
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| Published in | American journal of human genetics Vol. 89; no. 3; pp. 451 - 458 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
09.09.2011
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Abstract | 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 epigenotype at imprinted loci. Most cases of FBHM result from mutations of NLRP7, but genetic heterogeneity has been demonstrated. Here, we report biallelic mutations of C6orf221 in three families with FBHM. The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome. |
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| AbstractList | 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 epigenotype at imprinted loci. Most cases of FBHM result from mutations of NLRP7, but genetic heterogeneity has been demonstrated. Here, we report biallelic mutations of C6orf221 in three families with FBHM. The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome. [PUBLICATION ABSTRACT] 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 epigenotype at imprinted loci. Most cases of FBHM result from mutations of NLRP7, but genetic heterogeneity has been demonstrated. Here, we report biallelic mutations of C6orf221 in three families with FBHM. The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome. 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 epigenotype at imprinted loci. Most cases of FBHM result from mutations of NLRP7 , but genetic heterogeneity has been demonstrated. Here, we report biallelic mutations of C6orf221 in three families with FBHM. The previously described biological properties of their respective gene families suggest that NLRP7 and C6orf221 may interact as components of an oocyte complex that is directly or indirectly required for determination of epigenetic status on the oocyte genome. |
| Author | Sheridan, Eamonn G. Parry, David A. Logan, Clare V. Carr, Ian Diggle, Christine Johnson, Colin A. Fallahian, Masoumeh Malik, Saghira Rittore, Cécile Fisher, Rosemary A. Hayward, Bruce E. Shires, Michael Picton, Helen M. Philibert, Laurent Huntriss, John D. Taylor, Graham R. Touitou, Isabelle Landolsi, Hanène Bonthron, David T. |
| AuthorAffiliation | 4 Institute of Reproductive and Developmental Biology, Imperial College London SW7 2AZ, UK 2 Laboratoire d'anatomie et de cytologie pathologiques, Centre Hospitalier Universitaire (CHU), Farhat Hached, Rue Ibn Eljazzar, Sousse 4000, Tunisia 6 Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, LS2 9JT, UK 3 Unité médicale des maladies autoinflammatoires, Centre Hospitalier Universitaire (CHRU) Montpellier, Université Montpellier 1 UM1, Institut National de la Santé et de la Recherche Médicale (INSERM) U844, France 1 Section of Genetics, Leeds Institute of Molecular Medicine, St. James's University Hospital, Wellcome Trust Brenner Building, Leeds LS9 7TF, UK 5 Shaheed Beheshti University of Medical Sciences, Tehran, Iran |
| AuthorAffiliation_xml | – name: 5 Shaheed Beheshti University of Medical Sciences, Tehran, Iran – name: 1 Section of Genetics, Leeds Institute of Molecular Medicine, St. James's University Hospital, Wellcome Trust Brenner Building, Leeds LS9 7TF, UK – name: 4 Institute of Reproductive and Developmental Biology, Imperial College London SW7 2AZ, UK – name: 6 Leeds Institute of Genetics, Health and Therapeutics, University of Leeds, LS2 9JT, UK – name: 2 Laboratoire d'anatomie et de cytologie pathologiques, Centre Hospitalier Universitaire (CHU), Farhat Hached, Rue Ibn Eljazzar, Sousse 4000, Tunisia – name: 3 Unité médicale des maladies autoinflammatoires, Centre Hospitalier Universitaire (CHRU) Montpellier, Université Montpellier 1 UM1, Institut National de la Santé et de la Recherche Médicale (INSERM) U844, France |
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| Issue | 3 |
| Keywords | Human Trophoblaste pathology Pregnancy disorders Hydatidiform mole Family study Regulator Placenta diseases Genomic imprinting Placenta Tumor Genetics Mutation Oocyte |
| Language | English |
| License | http://www.elsevier.com/open-access/userlicense/1.0 CC BY 4.0 Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. https://www.elsevier.com/tdm/userlicense/1.0 |
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| Title | Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte |
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