tRNA methyltransferase homologue gene TRMT 10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy

This report describes the fourth family reported to have diabetes mellitus caused by a mutation in the TRMT10A gene. In contrast to the previous families, the diabetes mellitus in the patients we describe was diagnosed after 20 years of age, and at diagnosis they had only mild learning disability an...

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Bibliographic Details
Published in:Diabetic medicine 2016-09, Vol.33 (9)
Main Authors: Yew, T. W., McCreight, L., Colclough, K., Ellard, S., Pearson, E. R.
Format: Article
Language:English
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Summary:This report describes the fourth family reported to have diabetes mellitus caused by a mutation in the TRMT10A gene. In contrast to the previous families, the diabetes mellitus in the patients we describe was diagnosed after 20 years of age, and at diagnosis they had only mild learning disability and epilepsy with minimal other clinical features. TRMT10A sequencing should be considered in children or adults with young‐onset diabetes who have a history of intellectual disability, microcephaly and epilepsy. A targeted panel may be useful to identify previously unsuspected monogenic diabetes among individuals with young‐onset diabetes.
ISSN:0742-3071
1464-5491
DOI:10.1111/dme.13024