Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Recurrent hydatidiform mole 2

Recurrent hydatidiform mole type 1 is an autosomal recessive disorder caused by mutations of the KHDC3L gene.

Systematic

Hypomethylation syndrome
DNMT1
DNMT3A
DNMT3B
KHDC3L
MECP2
NLRP2
NLRP7
Recurrent hydatidiform mole 1
Recurrent hydatidiform mole 2
KHDC3L
ZFP57

References:

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.

[^]
Update: Sept. 26, 2018