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.
OBJECTIVE
The aim of this study is to analyze NLRP7 mutation frequency in 20 Mexican patients with recurrent hydatidiform moles (RHMs).


METHODS
Twenty patients with RHMs, 50 couples with recurrent pregnancy loss (RPL), and 100 controls were included in the study. Molecular analysis of the NLRP7 coding region was performed in patients with RHMs. Restriction enzyme digestion analysis and direct sequencing of the identified mutations were performed in controls and patients with RPL.


RESULTS
Patients displayed between two and six moles, and 10 of them presented other forms of pregnancy loss. Twelve (60%) patients were homozygous for the missense mutation c.2248C > G (p.L750V), five (25%) patients were heterozygous for the p.L750V mutation and the c.1018 G > A (p.E340K) variant, and three (15%) patients were heterozygous for the c.1018 G > A (p.E340K) variant. Five (5%) control women and four women and one man (5%) with RPL were heterozygous for the p.L750V mutation and two (2%) patients with RPL were heterozygous for the p.E340K variant.


CONCLUSIONS
A total of 60% of our RHM patients presented homozygous p.L750V mutations, 25% were compound heterozygotes for p.L750V mutation and the p.E340K variant, and 15% were heterozygous for p.E340K variant. Heterozygous p.L750V mutations were frequently observed in our population. Homozygous mutations were also present in patients with RHMs. Additional studies are needed to understand the role of the p.E340K variant in RHMs and RPL.
Genetics Department, Instituto Nacional de Perinatología, Mexico City, Mexico.
Higinio
H
Estrada
Beatriz
B
Buentello
Juan Carlos
JC
Zenteno
Rachel
R
Fiszman
Mónica
M
Aguinaga
D000026:Abortion, Habitual / Q000208:ethnology / Q000235:genetics; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006828:Hydatidiform Mole / Q000208:ethnology / Q000235:genetics*; D008800:Mexico; D009154:Mutation; D059645:Mutation Rate; D020125:Mutation, Missense / Q000235:genetics; D009364:Neoplasm Recurrence, Local; D011247:Pregnancy; D014594:Uterine Neoplasms / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
D048868:Adaptor Proteins, Signal Transducing; C502448:NLRP7 protein, human