Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole
نویسندگان
چکیده
منابع مشابه
Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families.
OBJECTIVES Hydatidiform mole is an aberrant pregnancy with hyperproliferative vesicular trophoblast and defective fetal development. In 2006, mutations in NLRP7 were found to be responsible for recurrent hydatidiform moles (RHM), but genetic heterogeneity has been demonstrated and mutations of C6orf221 were later reported in several families. Here we report a new Egyptian family in which two si...
متن کاملRecurrent 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 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 کاملC677T and A1298C Mutations in the Methylenetetrahydrofolate Reductase Gene in Patients with Recurrent Abortion from the Iranian Azeri Turkish
Background To assess whether the C677T and A1298C mutations in the methylenetetrahydrofolate reductase (MTHER) gene are associated with recurrent abortion (RA), we determined the frequencies of the T677 and C1298 mutations in patients and controls. MaterialsAndMethods Mutations were determined by a RFLP-PCR method in 53 patients and 61 matched controls. Results The frequencies of T alleles were...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2016
ISSN: 2054-345X
DOI: 10.1038/hgv.2016.27