No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles
نویسندگان
چکیده
منابع مشابه
NLRP7 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 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 کاملNo evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility.
STUDY QUESTION Are mutations in NLRP2/7 (NACHT, LRR and PYD domains-containing protein 2/7) or KHDC3L (KH Domain Containing 3 Like) associated with recurrent pregnancy loss (RPL) or infertility? SUMMARY ANSWER We found no evidence for mutations in NLRP2/7 or KHDC3L in unexplained RPL or infertility. WHAT IS KNOWN ALREADY Mutations in NLRP7 and KHDC3L are known to cause biparental hydatidifo...
متن کاملNLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.
STUDY QUESTION What is the subcellular localization in human oocytes and preimplantation embryos, of the two maternal-effect proteins, NLRP7 and KHDC3L, responsible for recurrent hydatidiform moles (RHMs)? SUMMARY ANSWER NLRP7 and KHDC3L localize to the oocyte cytoskeleton and are polar and absent from the cell-to-cell contact region in early preimplantation embryos. WHAT IS KNOWN ALREADY N...
متن کاملAbsence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting
Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It is characterized by HM with excessive trophoblastic proliferation, which mimics the appearance of androgenetic molar conceptuses despite their diploid biparental constitution. It has been proposed that the phenotypes of both types of mole are assoc...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2013
ISSN: 0197-3851
DOI: 10.1002/pd.4239