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

Prenatal Diagnosis

Volumn 33, Issue 3, 2013, Pages 205-208

  Estrada, Higinio ^a   Buentello, Beatriz ^b   Zenteno, Juan Carlos ^c   Fiszman, Rachel ^a   Aguinaga, Mónica ^a  

^a INSTITUTO NACIONAL DE PERINATOLOGÍA   (Mexico)

^b INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^c UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; AMINO ACID; NLRP7 PROTEIN; NUCLEOTIDE BINDING OLIGOMERIZATION DOMAIN LIKE RECEPTOR; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOPSY; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDATIDIFORM MOLE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT ABORTION;

ABORTION, HABITUAL; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CASE-CONTROL STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYDATIDIFORM MOLE; MEXICO; MUTATION; MUTATION RATE; MUTATION, MISSENSE; NEOPLASM RECURRENCE, LOCAL; PREGNANCY; UTERINE NEOPLASMS; YOUNG ADULT;

EID: 84874533888     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4036     Document Type: Article

References (18)

1. Palmer JR. Advances in the epidemiology of gestational trophoblastic disease. J Reprod Med 1994;39:155-62.
2. Lira Plascencia J, Tenorio González F, Gomezpedroso Rea J, et al. Gestational trophoblastic disease. A 6year experience at Instituto Nacional de Perinatologia. Ginecol Obstet Mex 1995;63:478-82.
3. Copeland LJ. Gestational trophoblastic neoplasia. In Textbook of Gynecology, Copeland LJ (ed). Philadelphia: W.B. Saunders Company, 1993;1133-51.
4. Lindor NM, Ney JA, Gaffey TA, et al. A genetic review of complete and partial hydatidiform molea and nonmolar triploidy. Mayo Clin Proc 1992;67:791-9.
5. Helwani MN, Seoud M, Zahed L, et al. A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution. Hum Genet 1999;105:112-5.
6. Murdoch S, Djuric U, Mazhar B, et al. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 2006;38:300-2.
7. Qian J, Deveault C, Bagga R, et al. Women Heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations. Hum Mutat 2007;28:741-2.
8. Kou YC, Shao L, Peng HH, et al. A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod 2008;14:33-40.
9. Wang CM, Dixon PH, Decordova S, et al. Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine rich region. J Med Genet 2009;46:569-75.
10. Buyukkurt S, Fisher RA, Vardar MA, Evruke C. Heterogeneity in recurrent complete hydatidiform mole: Presentation of two new Turkish families with different genetic characteristics. Placenta 2010;31:1023-35.
11. Muhlstein J, Golfier F, Rittore C, et al. The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole. Eur J Obstet Gynecol Reprod Biol 2011;157:197-9.
12. http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=8
13. Tschopp J, Matinon F, Burns K. NALPs: a novel protein family involved in inflammation. Nat Rev Mol Cell Biol 2003;4:95-104.
14. http://genetics.bwh.harvard.edu/pph/
15. Deveault C, Qian JH, Chebaro W, et al. NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. Hum Mol Genet 2009;18:888e97.
16. Fisher RA, Hodges MD, Newlands ES. Familial recurrent hydatidiform mole: a review. J Reprod Med 2004;49:595e601.
17. Messaed C, Chebaro W, Di Roberto R, et al. NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage. J Med Genet 2011;48:540-8.
18. Parry D, Logan C, Hayward B, et al. Mutations causing familial biparental hydatidiform mole implicate C6orf221 as a possible regulator of genomic imprinting in the human oocyte. Am J Hum Genet 2011;89:451-8.