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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles
Molecular Human Reproduction, Volume 14, No. 1, Year 2008
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Description
A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. Some women with recurrent BiHM have mutations in the NLRP7 gene on chromosome 19q13.42. Using bisulfite genomic sequencing at eight imprinted DMRs on DNA from two BiHMs, we found a pattern of failure to acquire or maintain DNA methylation at DMRs (PEG3, SNRPN, KCNQ1OT1, GNAS exon 1A) that normally acquire CpG methylation during oogenesis, but not at H19, which acquires CpG methylation during spermatogenesis. Secondary imprints at the GNAS locus showed variable abnormal patterns with both gain and loss of CpG methylation. We found novel missense and splice-site mutations in NLRP7 in women with non-familial recurrent BiHM. We identified and characterized a homozygous intragenic tandem duplication including exons 2 through 5 of NLRP7 that results in a predicted truncated protein in affected women of three unrelated Egyptian kindreds, suggesting a founder effect. Our findings firmly establish that NLRP7 mutations are a major cause of BiHM and confirm presence of a complex pattern of imprinting abnormalities in BiHM tissues. © The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.
Authors & Co-Authors
Kou, Y. C.
United States, Houston
Baylor College of Medicine
Shao, L.
United States, Houston
Baylor College of Medicine
Peng, H. H.
United States, Houston
Baylor College of Medicine
Rosetta, R.
United States, Houston
Baylor College of Medicine
Del Gaudio, D.
United States, Houston
Baylor College of Medicine
Wagner, A. F.
United States, Oklahoma City
University of Oklahoma Health Sciences Center
Al-Hussaini, Tarek Khalaf
Egypt, Asyut
Assiut University
Van den Veyver, I. B.
United States, Houston
Baylor College of Medicine
Statistics
Citations: 122
Authors: 8
Affiliations: 3
Identifiers
Doi:
10.1093/molehr/gam079
ISSN:
13609947
e-ISSN:
14602407
Research Areas
Genetics And Genomics
Maternal And Child Health
Sexual And Reproductive Health
Participants Gender
Female