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Table · dataset · 2026

Table 1_A novel homozygous DLGAP5 splice-site variant in a woman with oocyte maturation arrest and recurrent IVF failure: a case report.docx

Listed in figshare and Loughborough Research Repository — shown once because both records carry DOI 10.3389/fgene.2026.1963011.s001

<p>Oocyte maturation arrest (OMA) is a rare cause of female infertility characterized by impaired oocyte maturation and recurrent failure of assisted reproductive technologies.

Description

Recent studies have identified DLGAP5 as a critical regulator of meiotic spindle assembly, with biallelic variants causing oocyte maturation defects and early embryonic arrest. Till date, 10 females from seven families have been reported.

We report a 27-year-old Asian - Indian woman from a consanguineous family with 5 years of primary infertility and two IVF cycles characterized by poor metaphase II (MII) oocyte yield and complete blastocyst arrest. Whole-exome sequencing identified a novel canonical splice-acceptor variant, c.2064-1G>A, in homozygous state in DLGAP5. Segregation analysis confirmed heterozygous carrier status in both parents, whereas the variant was absent from the apparently healthy male sibling.

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This report expands the mutational spectrum of DLGAP5 and highlights the value of genomic testing in women with recurrent IVF failure and an OMA-like embryology phenotype.</p>

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Astronomy & Astrophysics · Chemistry · Chemistry · Computer Science & AI · Computer Science & AI · Earth & Environmental Science · Earth & Environmental Science · Economics & Finance · Economics & Finance · Engineering · Engineering · Genetics · Genetics · Humanities · Humanities · Life Sciences · Life Sciences · Materials Science · Mathematics & Statistics · Medicine & Health · Medicine & Health · Ocean & Atmospheric Science · Psychology & Behavioral Science · Social Science · Social Science
Inferred from text
Sequencing 75% · Tabular 65%
Provenance · 2 source records, 32 field assertions
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