Human Reproduction Update Advance Access originally published online on March 15, 2006
Human Reproduction Update 2006 12(3):233-242; doi:10.1093/humupd/dmk005
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Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring
1 Department of Obstetrics and Gynecology, 2 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA and 3 Department of Obstetrics and Gynecology, Assiut University, Assiut, Egypt
4 To whom correspondence should be addressed at: Department of Obstetrics and Gynecology, Baylor College of Medicine, 1709 Dryden, Suite 1100, Houston, TX 77030, USA. E-mail: iveyver{at}bcm.tmc.edu
Submitted on August 18, 2005; resubmitted on December 3, 2005; accepted on January 3, 2006
Highly recurrent hydatidiform moles (HMs) studied to date are not androgenetic but have biparental genomic contribution (BiHM). Affected women have an autosomal recessive mutation that causes their pregnancies to develop into HM. Although there is genetic heterogeneity, a major locus maps to chromosome 19q13.42, but a mutated gene has not yet been identified. Molecular studies have shown that maternal imprinting marks are deregulated in the BiHM trophoblast. The mutations that cause this condition are, therefore, hypothesized to occur in genes that encode transacting factors required for the establishment of imprinting marks in the maternal germline or for their maintenance in the embryo. Although only DNA methylation marks at imprinted loci have been studied in the BiHM, the mutation may affect genes that are essential for other forms of chromatin remodelling at imprinted loci and necessary for correct maternal allele-specific DNA methylation and imprinted gene expression. Normal pregnancies interspersed with BiHM have been reported in some of the pedigrees, but affected women repeatedly attempting pregnancy should be counselled about the risk for invasive trophoblastic disease with each subsequent BiHM.
Key words: embryology / genetic disorders / germ cells / imprinting / pregnancy
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