Recurrent hydatidiform mole type 1 is an autosomal recessive disorder caused by mutations of the KHDC3L gene.
Hypomethylation syndrome | ||||
DNMT1 | ||||
DNMT3A | ||||
DNMT3B | ||||
KHDC3L | ||||
MECP2 | ||||
NLRP2 | ||||
NLRP7 | ||||
Recurrent hydatidiform mole 1 | ||||
Recurrent hydatidiform mole 2 | ||||
KHDC3L | ||||
ZFP57 | ||||
1. |
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. |
2. |
Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. |
3. |
Judson H et al. (2002) A global disorder of imprinting in the human female germ line. |
4. |
Landolsi H et al. (2011) Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families. |
5. |
Parry DA et al. (2011) Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. |
6. |
Reddy R et al. (2013) Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. |
7. |
OMIM.ORG article Omim 614293 |