A recessively inherited loss of function mutation in the TRMT10A gene, which encodes a methyltransferase involved in the post-transcriptional modification of RNA, has been reported in three siblings from a single family with microcephaly, intellectual disability, short stature, delayed puberty, seizures and hyperinsulinaemic hypoglycaemia diagnosed outside of infancy (2). Post-prandial hyperglycaemia was also reported in one of the siblings.
Key References
- Gillis et al. TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. J Med Genet. 2014 Sep;51(9):581-6.