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). Genetic Heterogeneity of Preimplantation Embryonic LethalityPreimplantation embryonic lethality-2 (PREMBL2 ) is caused by mutation in the PADI6 gene (OMIM ) on chromosome 1p36.

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.


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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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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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