tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephal...
tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans
About this item
Full title
Author / Creator
Igoillo-Esteve, Mariana , Genin, Anne , Lambert, Nelle , Désir, Julie , Pirson, Isabelle , Abdulkarim, Baroj , Simonis, Nicolas , Drielsma, Anais , Marselli, Lorella , Marchetti, Piero , Vanderhaeghen, Pierre , Eizirik, Décio L. , Wuyts, Wim , Julier, Cécile , Chakera, Ali J. , Ellard, Sian , Hattersley, Andrew T. , Abramowicz, Marc and Cnop, Miriam
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
We describe a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability in a large consanguineous family with three affected children. Linkage analysis and whole exome sequencing were used to identify the causal nonsense mutation, which changed an arginine codon into a stop at position 127 of the tRNA methylt...
Alternative Titles
Full title
tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans
Authors, Artists and Contributors
Author / Creator
Genin, Anne
Lambert, Nelle
Désir, Julie
Pirson, Isabelle
Abdulkarim, Baroj
Simonis, Nicolas
Drielsma, Anais
Marselli, Lorella
Marchetti, Piero
Vanderhaeghen, Pierre
Eizirik, Décio L.
Wuyts, Wim
Julier, Cécile
Chakera, Ali J.
Ellard, Sian
Hattersley, Andrew T.
Abramowicz, Marc
Cnop, Miriam
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1458933237
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1458933237
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1003888
