Article
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
PLoS genetics - 1 Oct 2013
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, Cnop Miriam
Abstract excerpt
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 methyltransferase homolog gene TRMT10A (also called RG9MTD2). TRMT10A...
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