A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation
نویسندگان
چکیده
منابع مشابه
Recurrent partial hydatidiform mole.
Hydatidiform moles are abnormal conceptions characterised by atypical hyperplastic trophoblasts and hydropic villi. Their incidence is approximately 1 in 1000 pregnancies. The recurrence risk of hydatidiform mole is approximately 1 in 60 in a subsequent pregnancy and 1 in 6.5 in the third pregnancy. In cases with recurrence, the majority of moles are of the same type as that in the preceding pr...
متن کاملFounder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles
Background: Recurrent hydatidiform moles (RHMs) are an unusual pregnancy with at least two molar gestations that are associated with abnormal proliferation of trophoblastic tissue and a failure in the embryonic tissues development. Three maternal-effect genes, including NLRP7, KHDC3L, and PADI6 have been identified as the cause of RHMs. The present study aimed to understand the association of a...
متن کاملHydatidiform mole resulting from sexual violence
BACKGROUND Hydatidiform mole (HM) is characterized by abnormal proliferation of human trophoblast with producers functioning tissues of human chorionic gonadotropin. It can evolve with ovarian cysts tecaluteínicos, hypertension of pregnancy or hyperthyroidism. The incidence of HM is variable and its etiology poorly known, associated with nutritional factors, environmental, age, parity, history ...
متن کاملA Novel Mutation in NLRP7 Related to Recurrent Hyda-tidiform Mole and Reproductive Failure
Objective Hydatidiform mole (HM) is an abnormal human pregnancy with excessive trophoblastic proliferation and abnormal embryonic development, which is divided into two Complete (CHM) and Partial (PHM) groups. One subcategory of the CHMs is recurrent and familial, which is known as biparental hydatidiform mole (BiHMs) or recurrent hydatidiform mole (RHM). NLRP7 and KHDC3L, two maternal-effect g...
متن کاملMaternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects
The majority of congenital heart defects (CHDs) are thought to result from the interaction between multiple genetic, epigenetic, environmental, and lifestyle factors. Epigenetic mechanisms are attractive targets in the study of complex diseases because they may be altered by environmental factors and dietary interventions. We conducted a population based, case-control study of genome-wide mater...
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ژورنال
عنوان ژورنال: Genome Medicine
سال: 2019
ISSN: 1756-994X
DOI: 10.1186/s13073-019-0694-y