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Article

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

Journal of assisted reproduction and genetics - 1 Jun 2025

Zhao Haijing, Ouyang Nengyong, Ou Songbang, Lin Haiyan, Liao Zaowen, Liu Wenyi, Chen Hui, Yuan Ping

Abstract excerpt

PURPOSE: This study aimed to identify the genetic variants associated with early embryonic developmental arrest (EDA) in infertile patients and to expand the genotypic and phenotypic spectrum of maternal-effect genes, including PATL2, WEE2, and TUBB8, which are critical for oocyte maturation arrest (OMA) and fertilization failure (FF) as previously reported. METHODS: Whole-exome sequencing was performed on 84...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40399709
DOI: 10.1007/s10815-025-03501-w
PMCID: PMC12229393

Genes

PATL2
TUBB8
WEE2
EDA

Variants

Provenance

PubMed metadata and Literature Corpus relationships.

Related research

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Identification of novel variants and expansion of the phenotypic spectrum in PATL2, WEE2, and TUBB8 associated with human early embryonic arrest.PMID 40399709Read ↗

Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure.Semantic proximity Read ↗

Gene Spectrum and Clinical Traits of Nine Patients With Oocyte Maturation ArrestSemantic proximity Read ↗

Novel PATL2 variants cause female infertility with oocyte maturation defect.Semantic proximity Read ↗

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Novel mutations in TRIP13 lead to female infertility with oocyte maturation arrest.Semantic proximity Read ↗

Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.Semantic proximity Read ↗

The comprehensive variant and phenotypic spectrum of TUBB8 in female infertility.Semantic proximity Read ↗

Novel WEE2 homozygous mutations c.1346C>T and c.949A>T identified in primary infertile women due to unexplained fertilization failure.Semantic proximity Read ↗

Novel homozygous variants in ASTL and WEE2 responsible for female infertility characterized by abnormal fertilizationSemantic proximity Read ↗

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrestSemantic proximity Read ↗

Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.Semantic proximity Read ↗

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