TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys
| Autor: | Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-Shraga |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | JCRPE, Vol 14, Iss 2, Pp 227-232 (2022) |
| Druh dokumentu: | article |
| ISSN: | 1308-5727 1308-5735 |
| DOI: | 10.4274/jcrpe.galenos.2020.2020.0265 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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