PLCZ1 gene mutation leads to fertilization disorder: a case report

Area of Science:

• Genetics
• Reproductive Biology
• Molecular Biology

Background:

• Sperm-specific phospholipase C-zeta (PLCζ) is crucial for oocyte activation, inducing calcium oscillations.
• Mutations in the PLCZ1 gene can lead to impaired oocyte activation and fertilization failure.

Observation:

• A patient presenting with fertilization failure was analyzed using whole exome sequencing.
• The patient exhibited heterozygous mutations in the PLCZ1 gene: c.1733 C > T (p.M578L) and c.471 G > C (p.M157I).
• The patient's brother also carried heterozygous mutations in the PLCZ1 gene.

Findings:

• The identified PLCZ1 mutations are associated with male infertility and fertilization disorders.
• Genetic analysis confirmed the inheritance pattern of the PLCZ1 mutations within the family.

Implications:

• Understanding PLCZ1 mutations aids in diagnosing and managing male factor infertility.
• Successful clinical pregnancy was achieved using donor sperm, highlighting alternative reproductive options.
• This research enhances clinical knowledge of PLCZ1 gene's role in fertilization and associated disorders.