TRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

ABSTRACT: 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 mRNA and protein were absent in lymphoblasts from the affected siblings. TRMT10A is ubiquitously expressed but enriched in brain and pancreatic islets, consistent with the tissues affected in this syndrome. In situ hybridization studies showed that TRMT10A is expressed in human embryonic and fetal brain. TRMT10A is the mammalian ortholog of S. cerevisiae TRM10, previously shown to cat

SUBMITTER: Igoillo-Esteve M 

PROVIDER: S-EPMC3814312 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature