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TRMT10A MUTATION IN A CHILD WITH DIABETES, SHORT STATURE, MICROCEPHALY AND HYPOPLASTIC KIDNEYS
EVE STERN, ASAF VİVANTE, ORTAL BAREL, YAEL LEVY SHRAGA
Journal of Clinical Research in Pediatric Endocrinology - 2022;14(2):227-232
The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Unit of Pediatric Endocrinology and Diabetes, Tel-Hashomer, 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.

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