Back to today’s briefing

Story perspectives

New Genetic Cause of Neonatal Diabetes Uncovered

10/19/2025

50 8

Summary

Story summary

Mutations in the TMEM167A gene cause a rare neonatal diabetes form linked to microcephaly and MEDS syndrome.
In six infants with neonatal diabetes and microcephaly, TMEM167A is identified as the third genetic cause of MEDS syndrome.
Stem cells carrying the mutated TMEM167A variant differentiate into beta cells that cannot function or release insulin.
The finding sheds light on the genetic mechanisms of infant diabetes and may guide future research.

1 of 1

Story summary

Mutations in the TMEM167A gene cause a rare neonatal diabetes form linked to microcephaly and MEDS syndrome.
In six infants with neonatal diabetes and microcephaly, TMEM167A is identified as the third genetic cause of MEDS syndrome.
Stem cells carrying the mutated TMEM167A variant differentiate into beta cells that cannot function or release insulin.
The finding sheds light on the genetic mechanisms of infant diabetes and may guide future research.