Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region
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...
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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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2009
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2008.064196