ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 2 Year: 2022
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Turkish Society for Pediatric Endocrinology and Diabetes
<i>TRMT10A</i> Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2022; 14(2): 227-232 | DOI: 10.4274/jcrpe.galenos.2020.2020.0265

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys

Eve Stern1, Asaf Vivante2, Ortal Barel3, Yael Levy-Shraga1
1The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Unit of Pediatric Endocrinology and Diabetes, Tel-Hashomer; Tel-Aviv University, The Sackler Faculty of Medicine, Tel-Aviv, Israel
2The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Department of Pediatrics B and Pediatric Nephrology, Tel-Hashomer; Tel-Aviv University, The Sackler Faculty of Medicine, Tel-Aviv, Israel
3Sheba Cancer Research Center, The Genomic Unit, Tel-Hashomer; Tel-Aviv University, The Sackler Faculty of Medicine, Tel-Aviv, Israel

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.

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

Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-ShragaTRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys. J Clin Res Pediatr Endocrinol. 2022; 14(2): 227-232

Corresponding Author: Yael Levy-Shraga, Israel
Manuscript Language: English
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