A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility.
Mol Genet Genomic Med
; 9(8): e1743, 2021 08.
Article
en En
| MEDLINE
| ID: mdl-34264011
ABSTRACT
BACKGROUND:
Oocytes have a lot of maternal RNAs and proteins, which are used by the early embryo before zygotic genome activation. Transducin-like enhancer of split 6 (TLE6) is a component of a subcortical maternal complex which plays a critical role in early embryonic development.METHODS:
The patient had been diagnosed with primary infertility for 6 years and had undergone multiple failed in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) cycles. Genomic DNA samples were extracted from her parents' peripheral blood as well as hers. Whole-exome sequencing and Sanger validation were performed to identify candidate variants.RESULTS:
We identified a novel transducin-like enhancer of split 6 (TLE6) gene mutations in the female patient with recurrent IVF/ICSI failure. The patient carried a homozygous mutation (NM_001143986.1(TLE6) c.541+1G>A) and had viable but low-quality embryos. Her parents both had heterozygous mutations at this locus.CONCLUSION:
Our study expands the mutational and phenotypic spectrum of TLE6 and suggests the important role of TLE6 during embryonic development. Our findings have implications for the genetic diagnosis of female infertility with recurrent IVF/ICSI failure.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Co-Represoras
/
Infertilidad Femenina
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2021
Tipo del documento:
Article
País de afiliación:
China