Recurrent hydatidiform mole type 1 is an autosomal recessive disorder caused by mutations of the NALP7 gene.
Hypomethylation syndrome | ||||
DNMT1 | ||||
DNMT3A | ||||
DNMT3B | ||||
KHDC3L | ||||
MECP2 | ||||
NLRP2 | ||||
NLRP7 | ||||
Recurrent hydatidiform mole 1 | ||||
NLRP7 | ||||
Recurrent hydatidiform mole 2 | ||||
ZFP57 | ||||
1. |
Moglabey YB et al. (1999) Genetic mapping of a maternal locus responsible for familial hydatidiform moles. |
2. |
Slim R et al. (2007) The genetics of hydatidiform moles: new lights on an ancient disease. |
3. |
El-Maarri O et al. (2003) Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles. |
4. |
Helwani MN et al. () A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution. |
5. |
Sunde L et al. (1993) Genetic analysis of repeated, biparental, diploid, hydatidiform moles. |
6. |
Seoud M et al. (1995) Recurrent molar pregnancies in a family with extensive intermarriage: report of a family and review of the literature. |
7. |
Ambani LM et al. (1980) Familial occurrence of trophoblastic disease - report of recurrent molar pregnancies in sisters in three families. |
8. |
Fisher RA et al. (1988) Genetically homozygous choriocarcinoma following pregnancy with hydatidiform mole. |
9. |
Lindor NM et al. (1992) A genetic review of complete and partial hydatidiform moles and nonmolar triploidy. |
10. |
Kajii T et al. (1977) Androgenetic origin of hydatidiform mole. |
11. |
Nguyen NM et al. (2014) Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. |
12. |
Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. |
13. |
Andreasen L et al. (2012) Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. |
14. |
Wang CM et al. (2009) Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. |
15. |
Deveault C et al. (2009) NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. |
16. |
Djuric U et al. (2006) Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. |
17. |
Murdoch S et al. (2006) Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. |
18. |
Fisher RA et al. (2002) The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. |
19. |
Sensi A et al. (2000) Mole maker phenotype: possible narrowing of the candidate region. |
20. |
Vejerslev LO et al. (1991) Hydatidiform mole and fetus with normal karyotype: support of a separate entity. |
21. |
OMIM.ORG article Omim 231090 |