No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles

Prenatal Diagnosis

Volumn 33, Issue 13, 2013, Pages 1242-1247

  Mahadevan, Sangeetha ^a,e   Wen, Shu ^a   Balasa, Alfred ^a,e   Fruhman, Gary ^a   Mateus, Julio ^b   Wagner, Andrew ^c   Al Hussaini, Tarek ^d   Van den Veyver, Ignatia B ^a,e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b University of Texas Medical Branch School of Medicine   (United States)

^c UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^d Assiut University Faculty of Medicine   (Egypt)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGENETIC HYDATIDIFORM MOLE; ARTICLE; BIPARENTAL HYDATIDIFORM MOLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HYDATIDIFORM MOLE; KHDC3L GENE; NLRP7 GENE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; HYDATIDIFORM MOLE; INHERITANCE PATTERNS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PROTEINS; UTERINE NEOPLASMS;

EID: 84889676292     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4239     Document Type: Article

References (21)

1. Judson H, Hayward BE, Sheridan E, et al. A global disorder of imprinting in the human female germ line. Nature 2002;416(6880):539-42.
2. 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(1):33-40.
3. Fisher RA, Hodges MD, Rees HC, et al. The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. Hum Mol Genet 2002;11(26):3267-72.
4. Moglabey YB, Kircheisen R, Seoud M, et al. Genetic mapping of a maternal locus responsible for familial hydatidiform moles. Hum Mol Genet 1999;8(4):667-71.
5. Panichkul PC, Al-Hussaini TK, Sierra R, et al. Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis. J Soc Gynecol Investig 2005;12(5):376-83.
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(3):300-2.
7. Tian X, Pascal G, Monget P. Evolution and functional divergence of NLRP genes in mammalian reproductive systems. BMC Evol Biol 2009;9:202.
8. Zhang P, Dixon M, Zucchelli M, et al. Expression analysis of the NLRP gene family suggests a role in human preimplantation development. PLoS One 2008;3(7):e2755.
9. Parry DA, Logan CV, Hayward BE, 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(3):451-8.
10. Reddy R, Akoury E, Phuong Nguyen NM, et al. Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. Eur J Hum Genet 2012;21(9):957-64.
11. Messaed C, Chebaro W, Di Roberto RB, 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(8):540-8.
12. Qian J, Cheng Q, Murdoch S, et al. The genetics of recurrent hydatidiform moles in China: correlations between NLRP7 mutations, molar genotypes and reproductive outcomes. Mol Hum Reprod 2011;17(10):612-9.
13. Slim R, Coullin P, Diatta AL, et al. NLRP7 and the genetics of post-molar choriocarcinomas in Senegal. Mol Hum Reprod 2012;18(1):52-6.
14. Dixon PH, Trongwongsa P, Abu-Hayyah S, et al. Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles. J Med Genet 2012;49(3):206-11.
15. Slim R, Ao A, Surti U, et al. Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations. Placenta 2011;32(5):409-12.
16. Meyer E, Lim D, Pasha S, et al. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann syndrome). PLoS Genet 2009;5(3):e1000423.
17. Fisher RA, Lavery SA, Carby A, et al. What a difference an egg makes. Lancet 2011;378(9807):1974.
18. Edwards RG, Crow J, Dale S, et al. Pronuclear, cleavage and blastocyst histories in the attempted preimplantation diagnosis of the human hydatidiform mole. Hum Reprod 1992;7(7):994-8.
19. Reubinoff BE, Lewin A, Verner M, et al. Intracytoplasmic sperm injection combined with preimplantation genetic diagnosis for the prevention of recurrent gestational trophoblastic disease. Hum Reprod 1997;12(4):805-8.
20. Pal L, Toth TL, Leykin L, et al. High incidence of triploidy in in vitro fertilized oocytes from a patient with a previous history of recurrent gestational trophoblastic disease. Hum Reprod 1996;11(7):1529-32.
21. Andreasen L, Bolund L, Niemann I, et al. Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. Mol Hum Reprod 2012;18(12):593-8.