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tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy

BACKGROUND: A syndrome of young‐onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. CASE REPORT: We report two siblings from the fourth family reported...

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Autores principales: Yew, T. W., McCreight, L., Colclough, K., Ellard, S., Pearson, E. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995728/
https://www.ncbi.nlm.nih.gov/pubmed/26526202
http://dx.doi.org/10.1111/dme.13024
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author Yew, T. W.
McCreight, L.
Colclough, K.
Ellard, S.
Pearson, E. R.
author_facet Yew, T. W.
McCreight, L.
Colclough, K.
Ellard, S.
Pearson, E. R.
author_sort Yew, T. W.
collection PubMed
description BACKGROUND: A syndrome of young‐onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. CASE REPORT: We report two siblings from the fourth family reported to have diabetes mellitus as a result of a TRMT10A mutation. A homozygous nonsense mutation p.Glu27Ter in TRMT10A was identified using targeted next‐generation sequencing and confirmed by PCR/Sanger sequencing. Diabetes was diagnosed while the subjects were in their 20s and was characterized by insulin resistance. Epilepsy and intellectual disability were features in common. Mild microcephaly was present at birth but their final head circumferences were normal. CONCLUSION: Our report provides independent confirmation of the role of TRMT10A mutations in this syndrome and expands its phenotypic description. TRMT10A sequencing should be considered in children or adults with young‐onset diabetes who have a history of intellectual disability, microcephaly and epilepsy. This report also shows the advantages of using a targeted panel to identify previously unsuspected monogenic diabetes among young‐onset non‐insulin‐dependent diabetes in the absence of obesity and autoimmunity.
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spelling pubmed-49957282016-09-06 tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy Yew, T. W. McCreight, L. Colclough, K. Ellard, S. Pearson, E. R. Diabet Med Case Reports BACKGROUND: A syndrome of young‐onset diabetes mellitus associated with microcephaly, epilepsy and intellectual disability caused by mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene has recently been described. CASE REPORT: We report two siblings from the fourth family reported to have diabetes mellitus as a result of a TRMT10A mutation. A homozygous nonsense mutation p.Glu27Ter in TRMT10A was identified using targeted next‐generation sequencing and confirmed by PCR/Sanger sequencing. Diabetes was diagnosed while the subjects were in their 20s and was characterized by insulin resistance. Epilepsy and intellectual disability were features in common. Mild microcephaly was present at birth but their final head circumferences were normal. CONCLUSION: Our report provides independent confirmation of the role of TRMT10A mutations in this syndrome and expands its phenotypic description. TRMT10A sequencing should be considered in children or adults with young‐onset diabetes who have a history of intellectual disability, microcephaly and epilepsy. This report also shows the advantages of using a targeted panel to identify previously unsuspected monogenic diabetes among young‐onset non‐insulin‐dependent diabetes in the absence of obesity and autoimmunity. John Wiley and Sons Inc. 2016-08-17 2016-09 /pmc/articles/PMC4995728/ /pubmed/26526202 http://dx.doi.org/10.1111/dme.13024 Text en © 2015 The Authors. Diabetic Medicine published by John Wiley & Sons Ltd on behalf of Diabetes UK. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Yew, T. W.
McCreight, L.
Colclough, K.
Ellard, S.
Pearson, E. R.
tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
title tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
title_full tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
title_fullStr tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
title_full_unstemmed tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
title_short tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
title_sort trna methyltransferase homologue gene trmt10a mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4995728/
https://www.ncbi.nlm.nih.gov/pubmed/26526202
http://dx.doi.org/10.1111/dme.13024
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