Preimplantation embryonic lethality

Definition:

Preimplantation embryonic lethality (PREMBL), also known as early embryonic arrest, is one of the major causes of female infertility. Recently, a mutation in TLE6, which encodes a protein participating in the subcortical maternal complex (SCMC), was reported to cause this disease. The SCMC is composed of maternally expressed proteins and required for early embryonic cell division. Mutations in PADI6 have also been identified in individuals with PREMBL.

References:

[1]. Anas M Alazami, et al. TLE6 mutation causes the earliest known human embryonic lethality. Genome Biol. 2015 Nov 5;16:240. [Content Brief]

[2]. Yao Xu, et al. Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. Am J Hum Genet. 2016 Sep 1;99(3):744-752. [Content Brief]

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