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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations causing familial biparental hydatidiform mole implicate C6orf221 as a possible regulator of genomic imprinting in the human oocyte
American Journal of Human Genetics, Volume 89, No. 3, Year 2011
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Description
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. © 2011 The American Society of Human Genetics.
Authors & Co-Authors
Parry, David A.
United Kingdom, Leeds
St James's University Hospital
Logan, Clare V.
United Kingdom, Leeds
St James's University Hospital
Hayward, Bruce Eliot
United Kingdom, Leeds
St James's University Hospital
Shires, Michael
United Kingdom, Leeds
St James's University Hospital
Landolsi, Hanène
Tunisia, Sousse
Chu Sahloul
Diggle, Christine P.
United Kingdom, Leeds
St James's University Hospital
Carr, Ian M.
United Kingdom, Leeds
St James's University Hospital
Rittore, Cécile
France, Paris
Inserm
Touïtou, Isabelle
France, Paris
Inserm
Philibert, Laurent
France, Paris
Inserm
Fisher, Rosemary Ann
United Kingdom, London
Imperial College London
Fallahian, Masoumeh
Iran, Tehran
Shahid Beheshti University of Medical Sciences
Huntriss, John D.
United Kingdom, Leeds
University of Leeds, School of Medicine
Picton, Helen Mary
United Kingdom, Leeds
University of Leeds, School of Medicine
Malik, Saghira
United Kingdom, Leeds
St James's University Hospital
Taylor, Graham Roy
United Kingdom, Leeds
St James's University Hospital
Johnson, Colin A.
United Kingdom, Leeds
St James's University Hospital
Bonthron, David T.
United Kingdom, Leeds
St James's University Hospital
Sheridan, Eamonn G.
United Kingdom, Leeds
St James's University Hospital
Statistics
Citations: 213
Authors: 19
Affiliations: 6
Identifiers
Doi:
10.1016/j.ajhg.2011.08.002
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Female