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

A novel homozygous DLGAP5 splice-site variant is linked to oocyte maturation arrest and recurrent IVF failure in a woman from a consanguineous family.

• Why it matters: Oocyte maturation arrest causes female infertility and impairs assisted reproductive success, but its genetic causes are not fully understood. Identifying specific variants can improve diagnosis and management.
• What they did: Researchers performed whole-exome sequencing on a 27-year-old woman with poor MII oocyte yield and blastocyst arrest, discovering a novel homozygous c.2064-1G>A splice-acceptor variant in DLGAP5, confirmed by segregation analysis.
• The result: This case expands the known mutational spectrum of DLGAP5 and underscores the importance of genomic testing for women with recurrent IVF failure and OMA-like embryology phenotypes.