Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage
نویسندگان
چکیده
منابع مشابه
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage.
Maternal effect genes control early events of embryogenesis. Maternal homozygous and compound mutations in two such genes, NLRP7 and c6orf221, have been detected in the majority of women experiencing recurrent biparental hydatidiform moles. It was suggested that other forms of reproductive wastage, including diploid androgenetic moles, partial moles, polyploidy, recurrent spontaneous abortions ...
متن کاملNLRP7 or KHDC3L genes and the etiology of molar pregnancies and recurrent miscarriage.
Women with mutation in both alleles of the NLRP7 or C6orf221/KHDC3L genes are predisposed to diploid biparental moles, but it has also been suggested that mutation in these genes can predispose to diploid androgenetic or triploid moles and to other kinds of reproductive wastage. We have investigated the association between molar pregnancy and recurrent miscarriages regarding changes in the NLRP...
متن کاملMosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221.
Hydatidiform moles (HMs) most often occur sporadically and are either diploid androgenetic or triploid. The very rare familial recurrent HMs (FRHMs) have been related to NLRP7 and C6orf221 mutations in the mother. FRHMs are most often diploid with both maternal and paternal origin of the molar genome. We have screened a cohort of 11 women with diploid HMs with biparental contributions to the mo...
متن کاملNLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
Hydatidiform mole is an aberrant pregnancy with abnormal embryonic development and hydropic placental villi. Common moles are sporadic, not recurrent and affect one in every 1500 pregnancies in Western societies. Approximately, half of common moles are complete and mostly diploid androgenetic, whereas the remaining are partial and mostly triploid diandric. NLRP7 has been found to be responsible...
متن کاملRecurrent triploidy of maternal origin.
We report the occurrence of triploid preimplantation embryos following in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in a woman with two previously-identified triploid conceptuses which spontaneously underwent fetal demise at 10 and 23 weeks' gestation. An error in maternal meiosis II is proposed as the most likely cause.
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ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 2013
ISSN: 1360-9947,1460-2407
DOI: 10.1093/molehr/gat019