Germline NLRP7 mutations: genomic imprinting and 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 کاملA recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.
A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. Some women with recurrent BiHM have mutations in the NLRP7 gene on chromosome 1...
متن کاملHydatidiform mole and triploidy: the role of genomic imprinting in placental development.
Genomic imprinting, the differential expression of paternal and maternal alleles, is involved in the regulation of embryonic and fetal growth and development. In this review, we focus on the genetics of a disorder caused by a global defect in genomic imprinting, the hydatidiform mole. The ratio between the maternal and paternal genomes is critical in determining the development of both the embr...
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...
متن کاملUnderstanding hydatidiform mole.
Hydatidiform mole (often referred to as molar pregnancy) is the most common disorder in a category of pathologies known as Gestational Trophoblastic Diseases that are associated with abnormal fertilization in pregnancy. Current practices in screening and monitoring during early pregnancy allow for better identification of hydatidiform mole, sometimes prior to the onset of significant symptoms.O...
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ژورنال
عنوان ژورنال: Virchows Archiv
سال: 2020
ISSN: 0945-6317,1432-2307
DOI: 10.1007/s00428-020-02802-y