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4 in several ethnic groups, (17-19) with the subsequent identification of the causative gene, NLRP7 (nucleotide-binding, leucine-rich repeat, pyrin domain).
Genomic DNA was extracted from peripheral white blood cells and the 11 NLRP7 exons and flanking intronic sequences were amplified by using primers tailed at 5' end with the universal M13 sequence (primers available upon request).
15%) were heterozygous for 4 NLRP7 mutations (Table; Figure 1, C, F, I, and N).
Heterozygous NLRP7 mutations were found in more than 13% of our patients with sporadic hydatidiform moles, associated or not with normal pregnancies.
Our findings are in concordance with those of Deveault et al, (26) who demonstrated that NLRP7 mutations or variants are responsible not only for diploid biparental moles as previously shown, but also for diploid androgenetic moles, triploid moles, and for tetraploid spontaneous abortions.
The exact role of NLRP7 in this pathologic process is poorly understood.
It has been demonstrated that embryos from patients with NLRP7 mutations and variants have early cleavage abnormalities during in vivo and in vitro postzygotic development.
As in our study, Deveault et al (26) found that the presence of a single allelic variant at the NLRP7 locus was associated with the disease phenotype in 5 patients (Table).
Our findings add further insight to the hypothesis that NLRP7 heterozygosity may be involved in the development of sporadic molar pregnancies, either complete or partial moles, associated or not with other forms of reproductive failure.
A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.
To the best of our knowledge, this report establishes for the first time that oocyte donation can enable women with familial recurrent hydatidiform moles due to NLRP7 mutations to achieve a normal pregnancy," Ms.
The study also shows "that the major role of NLRP7 in pregnancy is in the developing oocyte," they said.
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