Imprinting disorders

Gene: KHDC3L

Green List (high evidence)

Biallelic pathogenic variants in the gene have been associated with Biparental complete hydatifom mole (BiCHM) in multiple individuals. There is one report of an individual with recurrent hydatiform mole and biallelic variants in this gene who experienced a single digynic triploid pregnancy presenting as a CHM, whereas other pregnancies were BiCHM (23125094).

Most reported individuals have been found to carry biallelic pathogenic variants in this gene. A minority have been found to carry a heterozygous variant only. A relationship between zygosity and severity of the condition has not been definitively established.

As is the case for other genes encoding components of the subcortical maternal complex (SCMC), the pathogenicity of variants can be difficult to establish as reproductive outcomes are not recorded in genomic databases and variants may be listed in population databases as they are not classed as pathogenic in males or women with no reproductive history.

Functional studies of genes encoding components of the SCMC are limited as their expression is restricted to the oocyte and early embryo.
Sources: Literature

Created: 15 Oct 2021, 12:58 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hydatiform mold recurrent 2 MIM#614293

Publications

• 23232697
• 31847873
• 23125094
• 21885028