Genetic and epigenetic analysis of recurrent hydatidiform mole
Genetic and epigenetic analysis of recurrent hydatidiform mole
Familial biparental hydatidiform mole (FBHM) is a maternal-effect autosomal recessive disorder in which recurrent pregnancy failure with molar degeneration occurs. The phenotype mimics molar pregnancy due to androgenesis, despite the normal genetic makeup of the conceptus. FBHM appears to result from a failure to establish correct maternal epigenetic identity at imprinted loci during oogenesis. Several women affected with FBHM have previously been shown to have biallelic mutations in the NLRP7 gene (NALP7). Here, we present the results of epigenetic and mutational analysis on FBHM patients from 11 families, 10 of them novel. We demonstrate a methylation defect at imprinted loci in tissue from four new FBHM cases. Biallelic NLRP7 mutations, including eight previously undescribed mutations, were found in all but one family. These results indicate for the first time that maternal imprints at some loci may be correctly specified in FBHM conceptions, since differential methylation of SGCE/PEG10 was preserved in all four cases
E629-E639
Hayward, Bruce E.
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De Vos, Michel
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Talati, Nargese
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Abdollahi, M Reza
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Taylor, Graham R.
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Meyer, Esther
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Williams, Denise
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Maher, Eamonn R.
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Setna, Faridon
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Nazir, Kausar
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Hussaini, Shahnaz
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Jafri, Hussain
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Rashid, Yasmin
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Sheridan, Eamonn
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Bonthron, David T.
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May 2009
Hayward, Bruce E.
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De Vos, Michel
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Talati, Nargese
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Abdollahi, M Reza
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Taylor, Graham R.
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Meyer, Esther
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Williams, Denise
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Maher, Eamonn R.
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Setna, Faridon
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Nazir, Kausar
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Hussaini, Shahnaz
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Jafri, Hussain
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Rashid, Yasmin
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Sheridan, Eamonn
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Bonthron, David T.
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Hayward, Bruce E., De Vos, Michel, Talati, Nargese, Abdollahi, M Reza, Taylor, Graham R., Meyer, Esther, Williams, Denise, Maher, Eamonn R., Setna, Faridon, Nazir, Kausar, Hussaini, Shahnaz, Jafri, Hussain, Rashid, Yasmin, Sheridan, Eamonn and Bonthron, David T.
(2009)
Genetic and epigenetic analysis of recurrent hydatidiform mole.
Human Mutation, 30 (5), .
(doi:10.1002/humu.20993).
(PMID:19309689)
Abstract
Familial biparental hydatidiform mole (FBHM) is a maternal-effect autosomal recessive disorder in which recurrent pregnancy failure with molar degeneration occurs. The phenotype mimics molar pregnancy due to androgenesis, despite the normal genetic makeup of the conceptus. FBHM appears to result from a failure to establish correct maternal epigenetic identity at imprinted loci during oogenesis. Several women affected with FBHM have previously been shown to have biallelic mutations in the NLRP7 gene (NALP7). Here, we present the results of epigenetic and mutational analysis on FBHM patients from 11 families, 10 of them novel. We demonstrate a methylation defect at imprinted loci in tissue from four new FBHM cases. Biallelic NLRP7 mutations, including eight previously undescribed mutations, were found in all but one family. These results indicate for the first time that maternal imprints at some loci may be correctly specified in FBHM conceptions, since differential methylation of SGCE/PEG10 was preserved in all four cases
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Published date: May 2009
Organisations:
Cancer Sciences
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Local EPrints ID: 364364
URI: http://eprints.soton.ac.uk/id/eprint/364364
ISSN: 1059-7794
PURE UUID: cbadcde2-b589-408a-a55c-100ceefefc0b
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Date deposited: 25 Apr 2014 10:23
Last modified: 14 Mar 2024 16:34
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Contributors
Author:
Bruce E. Hayward
Author:
Michel De Vos
Author:
Nargese Talati
Author:
M Reza Abdollahi
Author:
Graham R. Taylor
Author:
Esther Meyer
Author:
Denise Williams
Author:
Eamonn R. Maher
Author:
Faridon Setna
Author:
Kausar Nazir
Author:
Shahnaz Hussaini
Author:
Hussain Jafri
Author:
Yasmin Rashid
Author:
Eamonn Sheridan
Author:
David T. Bonthron
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