Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

KHDC3-like protein

The KHDC3L gene encodes a protein involved in DNA-methylation in particular in oocytes. Mutations cause autosomal recessive recurrent hydatidiform mole 2 and may also play a role in hypomethylation syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

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

References:

1.

Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.

[^]
2.

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.

[^]
3.

Fallahian M et al. (2013) Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions.

[^]
4.

Judson H et al. (2002) A global disorder of imprinting in the human female germ line.

[^]
5.

Landolsi H et al. (2011) Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families.

[^]
6.

Parry DA et al. (2011) Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.

[^]
7.

Reddy R et al. (2013) Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

[^]
8.

Pierre A et al. (2007) Atypical structure and phylogenomic evolution of the new eutherian oocyte- and embryo-expressed KHDC1/DPPA5/ECAT1/OOEP gene family.

[^]
9.

Li L et al. (2008) A subcortical maternal complex essential for preimplantation mouse embryogenesis.

[^]
10.

Zheng P et al. (2009) Role of Filia, a maternal effect gene, in maintaining euploidy during cleavage-stage mouse embryogenesis.

[^]
11.

Zhu K et al. (2015) Identification of a human subcortical maternal complex.

[^]
12.

NCBI article

NCBI 154288 [^]
13.

OMIM.ORG article

Omim 611687 [^]
14.

Orphanet article

Orphanet ID 287584 [^]
Update: April 29, 2019