Open AccessTRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys
Author(s) -
Eve Stern,
Asaf Vivante,
Ortal Barel,
Yael LevyShraga
Publication year - 2022
Publication title -
jcrpe
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.566
H-Index - 35
eISSN - 1308-5735
pISSN - 1308-5727
DOI - 10.4274/jcrpe.galenos.2020.2020.0265
Subject(s) - medicine , short stature , microcephaly , diabetes mellitus , pediatrics , intellectual disability , mutation , endocrinology , genetics , gene , psychiatry , biology
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 hemoglobin A1c and positive islet cell autoantibodies. Additional clinical features included intellectual disability, hypoplastic kidneys and short stature. In view of the syndromic features coexistant with 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.