Imprinting disorders

Gene: TLE6

I don't know

The first report of a single homozygous missense variant in three women from two families with primary infertility was published in 2015. In 2021, Zheng et al reported six biallelic variants in TLE6 in five patients with embryonic arrest, accompanied by direct cleavage and severe fragmentation at the cleavage stage. A mechanism is proposed.

I am uncertain regarding classification of this gene (amber vs green) due to the low specificity of this phenotype. I am uncertain if the changes seen in the early embryo, such as fragmentation, make this phenotype more specific.

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, 1:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pre-implantation embryonic lethality MIM#616814

Publications

• 26537248
• 25542835