MN1 plays a critical role in human craniofacial and brain development

Takeaway

  • MN1 C-terminal truncation (MCTT) syndrome results from the dominantly acting C-terminally truncated MN1 protein.

Why this matters

    Although whole exome sequencing (WES) has increased the ability to provide a molecular diagnosis for individuals with developmental disorders, the genetic causes of many conditions, such as rhombencephalosynapsis (RES), remains elusive.