The p.L750V mutation in the <i>NLRP7</i> gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss

Estrada, Higinio; Buentello, Beatriz; Zenteno, Juan Carlos; Fiszman, Rachel; Aguinaga, Mónica

doi:10.1002/pd.4036

Cited by 19 publications

(14 citation statements)

References 14 publications

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“…The mutations segregated in the studied families and each patient had two defective alleles, each inherited from one parent as expected for an autosomal recessive disease. Later, others and we confirmed the causality of NLRP7 mutations in patients from different populations (54, 60, 63, 66, 67, 69, 71, 72), demonstrating that NLRP7 is a major gene for RHMs. To date, approximately 42 different mutations have been reported in patients with two defective alleles (Figure 3) (73) Of these mutations, 65% are protein-truncating (stop codon, splice mutations, small insertions and deletions, and large rearrangements) and 35% are missense mutations, which are, respectively, higher and lower than the frequencies of these two categories of mutations observed in all human diseases, 56 and 44% ().…”

Section: Lessons From Studying Extreme Phenotypessupporting

confidence: 66%

“…Consequently, we and others believed that the familial form of moles was extremely rare. However, this was not true and approximately 30 new familial cases have been reported since 1999 (47, 53–69) indicating that familial RHMs are not extremely rare as originally believed, but were probably under-reported. In addition, about 88 singleton cases of RHMs have been described since 1999.…”

Section: The Importance Of Crossing Our Disciplinementioning

confidence: 93%

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NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges

Slim

Wallace

2013

Front. Immunol.

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NOD-like receptor proteins (NLRPs) are emerging key players in several inflammatory pathways in Mammals. The first identified gene coding for a protein from this family is Nlrp5 and was originally called Mater for “Maternal Antigen That Mouse Embryos Require” for normal development beyond the two-cell stage. This important discovery was followed by the identification of other NLRPs playing roles in inflammatory disorders and of the first maternal-effect gene in humans, NLRP7, which is responsible for an aberrant form of human pregnancy called hydatidiform mole (HM). In this review, we recapitulate the various aspects of the pathology of HM, highlight recent advances regarding NLRP7 and its role in HM and related forms of reproductive losses, and expand our discussion to other NLRPs with a special emphasis on those with known roles in mammalian reproduction. Our aim is to facilitate the genetic complexity of recurrent fetal loss in humans and encourage interdisciplinary collaborations in the fields of NLRPs and reproductive loss.

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Section: Lessons From Studying Extreme Phenotypessupporting

confidence: 66%

Section: The Importance Of Crossing Our Disciplinementioning

confidence: 93%

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges

Slim

Wallace

2013

Front. Immunol.

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“…Two maternal-effect genes responsible for recurrent hydatidiform moles (RHM), NLRP7 and KHDC3L, have been identified (Murdoch et al, 2006;Parry et al, 2011). NLRP7 codes for a nucleotide oligomerization domain-like receptor pyrin containing protein and is mutated in 48 to 80% of patients with RHM (Estrada et al, 2013;Hayward et al, 2009;Qian et al, 2011;Sebire et al, 2013;Slim et al, 2009). KHDC3L codes for a KH domain containing 3-like, a member of the subcortical maternal protein complex, and is mutated in 10 to 14% of NLRP7-negative patients (Parry et al, 2011;Reddy et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations

Akoury

Gupta

Bagga

et al. 2015

Reproductive BioMedicine Online

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Hydatidiform mole (HM) is an aberrant human pregnancy with abnormal embryonic development and excessive proliferation of the trophoblast. Recessive mutations in NLRP7 are responsible for recurrent HM (RHM). Women with recessive NLRP7 mutations fail to have normal pregnancies from spontaneous conceptions with the exception of three out of 131 reported patients. Because there is no treatment for RHM and maternal-effect genes are needed in the oocytes to sustain normal embryonic development until the activation of the embryonic genome, one patient with recessive NLRP7 mutations tried ovum donation and achieved a successful pregnancy. This study reports three additional live births from donated ova to two patients with recessive NLRP7 mutations. The occurrence of two live births from spontaneous conceptions to two other patients is also reported. The reproductive outcomes and mutations of all reported patients were reviewed and it was found that live births are associated with some missense mutations expected to have mild functional consequences on the protein. The data support a previous observation that ovum donation appears the best management option for these patients to achieve normal pregnancies and provide an explanation for the rare occurrence of live births from natural spontaneous conceptions in patients with two NLRP7 mutations.

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“…Genetic, infective, anatomical, endocrine, and immune defects have been postulated as the causes of RPL [2]. Genetic theory for susceptibility to RPL has been supported by genome-wide association studies [3,4]. However, the influence of new potential candidate genes that explain the etiology of RPL and offer therapeutic targets should still be examined to come up with treatment methods for RPL.…”

Section: Introductionmentioning

confidence: 99%

Association between apolipoprotein E gene polymorphism and the risk of recurrent pregnancy loss: A meta-analysis

Meng

Mei

Yuan-yuan

et al. 2013

J Assist Reprod Genet

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Purpose The association between apolipoprotein E (ApoE) gene polymorphism and the risk of recurrent pregnancy loss (RPL) remains controversial. The present meta-analysis was performed to derive a precise estimate of the relationship. Method(s) We searched the PubMed, Embase, and Web of Science data-bases for studies related to the association between the ApoE genotype and the risk of RPL. We estimated the summary odds ratio (OR) with 95% confidence interval (CI) to assess the association. Result(s) Seven studies, including 2,090 RPL cases and 742 control samples, were identified. The results showed a significant association between ApoE E4 mutation and RPL risk (for E4 allele: OR =1.98, 95 %CI =1.14-3.43, P=0.499; for E2E3 vs. E3E3: OR =1.33, 95%CI =1.12-1.42, P=0.008; for E2E4 vs. E3E3: OR =1.26, 95 % CI =1.07-1.49, P=0.005). Conclusion(s)The meta-analysis suggests an association between ApoE E4 mutation and increased risk of RPL.

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The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss

Cited by 19 publications

References 14 publications

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations

Association between apolipoprotein E gene polymorphism and the risk of recurrent pregnancy loss: A meta-analysis

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