Preimplantation Embryonic Lethality 1; Prembl1
Description
Maternal genes play a critical role in the very early stages of embryonic development because of the lag in transcribing genes derived from the male pronucleus. TLE6 mutations are a rare cause of human female-limited fertility and appear to represent the earliest known human embryonic lethality that is due to a single gene mutation. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation is severely impaired (Alazami et al., 2015).
Clinical Features
Phenotypes and symptoms related to Preimplantation Embryonic Lethality 1; Prembl1
- Infertility
- Developmental stagnation
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Preimplantation Embryonic Lethality 1; Prembl1 Is also known as prembl.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Preimplantation Embryonic Lethality 1; Prembl1 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 TLE6.
By Fulgent Genetics Fulgent Genetics (United States).
TLE6
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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