Human Reproduction Update Advance Access first published online on March 15, 2006
This version published online on March 28, 2006
Human Reproduction Update, doi:10.1093/humupd/dmk005
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1 Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
* To whom correspondence should be addressed. 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.
Received August 18, 2005
Revised December 3, 2005
Accepted January 3, 2006
Article
Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring
I.B. Van den Veyver 1 *
and
T.K. Al-Hussaini 2
2 Department of Obstetrics and Gynecology, Assiut University, Assiut, Egypt
I.B. Van den Veyver, E-mail: iveyver{at}bcm.tmc.edu
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