Case Report

TRMT10A mutation in a child with diabetes, short stature, microcephaly and hypoplastic kidneys

10.4274/jcrpe.galenos.2020.2020.0265

  • Eve Stern
  • Asaf Vivante
  • Ortal Barel
  • Yael Levy-Shraga

Received Date: 25.11.2020 Accepted Date: 28.12.2020 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 33448213

A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglycemia, a raised HbA1C and positive islet cell autoantibodies. Additional clinical features included intellectual disability, hypoplastic kidneys and short stature. In view of syndromic features alongside diabetes, genetic evaluation was carried out revealing a homozygous mutation in the TRMT10A gene (c.616G>A, p.G206R). The case highlights the importance of genetic evaluation of patients with diabetes with atypical features that can further progress our understanding of the pathophysiology of the rarer subtypes of diabetes.

Keywords: Monogenic diabetes; short stature; microcephaly; hypoplastic kidneys