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Unexpected perinatal death caused by an occult MTM1 mutation: a case report
Man-Man Zhu1,2, Dong-Mei Li1,2, Yi-Cheng Wu1,2
1Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.
Frontiers in Medicine
|April 9, 2026
Summary
Whole-exome sequencing identified a rare MTM1 gene mutation causing stillbirth, a condition missed by standard prenatal tests. This advanced genetic testing offers crucial insights into unexplained fetal deaths.
Area of Science:
- Genetics
- Reproductive Medicine
- Pediatrics
Background:
- Genetic mutations are a significant cause of adverse pregnancy outcomes, including stillbirth and fetal abnormalities.
- Standard prenatal screening may not detect all rare genetic disorders.
- Whole-exome sequencing (WES) offers a more comprehensive genetic analysis when routine tests are insufficient.

