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

2.50
Hdl Handle:
http://hdl.handle.net/11287/593953
Title:
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy
Authors:
Yew, T. W.; McCreight, L.; Colclough, Kevin; Ellard, Sian ( 0000-0002-7620-5526 ) ; Pearson, E. R.
Abstract:
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. This article is protected by copyright. All rights reserved.
Citation:
Diabet Med. 2016 Sep;33(9):e21-5
Publisher:
Wiley
Journal:
Diabetic medicine : a journal of the British Diabetic Association
Issue Date:
3-Nov-2015
URI:
http://hdl.handle.net/11287/593953
DOI:
10.1111/dme.13024
PubMed ID:
26526202
Additional Links:
http://onlinelibrary.wiley.com/doi/10.1111/dme.13024/abstract
Note:
This article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.
Type:
Journal Article
Language:
Eng
ISSN:
1464-5491
Appears in Collections:
2015 RD&E publications; Molecular Genetics; Molecular Genetics

Full metadata record

DC FieldValue Language
dc.contributor.authorYew, T. W.en
dc.contributor.authorMcCreight, L.en
dc.contributor.authorColclough, Kevinen
dc.contributor.authorEllard, Sianen
dc.contributor.authorPearson, E. R.en
dc.date.accessioned2016-01-19T12:37:55Zen
dc.date.available2016-01-19T12:37:55Zen
dc.date.issued2015-11-03en
dc.identifier.citationDiabet Med. 2016 Sep;33(9):e21-5en
dc.identifier.issn1464-5491en
dc.identifier.pmid26526202en
dc.identifier.doi10.1111/dme.13024en
dc.identifier.urihttp://hdl.handle.net/11287/593953en
dc.description.abstractBACKGROUND: 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. This article is protected by copyright. All rights reserved.en
dc.language.isoEngen
dc.publisherWileyen
dc.relation.urlhttp://onlinelibrary.wiley.com/doi/10.1111/dme.13024/abstracten
dc.titletRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsyen
dc.typeJournal Articleen
dc.identifier.journalDiabetic medicine : a journal of the British Diabetic Associationen
dc.description.noteThis article is available via Open Access. Please click on the 'Additional Link' above to access the full-text.en

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