Document Detail

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.
MedLine Citation:
PMID:  23354651     Owner:  NLM     Status:  Publisher    
OBJECTIVE: The aim of this study is to analyze NLRP7 mutation frequency in 20 Mexican patients with recurrent hydatidiform moles (RHMs). PATIENTS: 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. © 2013 John Wiley & Sons, Ltd.
Higinio Estrada; Beatriz Buentello; Juan Carlos Zenteno; Rachel Fiszman; Mónica Aguinaga
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-28
Journal Detail:
Title:  Prenatal diagnosis     Volume:  -     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  1-4     Citation Subset:  -    
Copyright Information:
© 2013 John Wiley & Sons, Ltd.
Genetics Department, Instituto Nacional de Perinatología, Mexico City, Mexico.
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