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Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest

1 Jan 2024

Abstract excerpt

Preimplantation embryonic developmental arrest (EDA) is a common cause of unexplained female infertility. Genetic factors are believed to be one of the primary causes contributing to EDA. In this study, we identify four novel compound heterozygous mutations in TLE6 and NLRP5, in two infertile female patients experiencing recurrent EDA, using whole‐exome sequencing. Functional analysis revealed that the two...

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PMID: 40225929
DOI: 10.1155/2024/9278518

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Related research

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Research trail→

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Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic ArrestPMID 40225929Read ↗

Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrestSemantic proximity Read ↗

A novel variant in TLE6 is associated with embryonic developmental arrest (EDA) in familial female infertility.Semantic proximity Read ↗

Identification of Novel SCMC Gene Variants Associated With Early Embryonic Arrest.Semantic proximity Read ↗

Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.Semantic proximity Read ↗

Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development.Semantic proximity Read ↗

A novel homozygous mutation in the NLRP2 gene causes early embryonic arrest.Semantic proximity Read ↗

Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest.Semantic proximity Read ↗

Identification of Novel Biallelic TLE6 Variants in Female Infertility With Preimplantation Embryonic LethalitySemantic proximity Read ↗

A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family.Semantic proximity Read ↗

Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of female infertility caused by TLE6 mutations.Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.Semantic proximity Read ↗

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