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Article

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

Journal of clinical research in pediatric endocrinology - 7 Jun 2022

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

Abstract excerpt

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...

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Identifiers

PMID: 33448213
DOI: 10.4274/jcrpe.galenos.2020.2020.0265
PMCID: PMC9176091

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