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
PubMed
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.