Ontology highlight
ABSTRACT:
SUBMITTER: Lin H
PROVIDER: S-EPMC7569974 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Lin Hu H Zhou Xuelian X Chen Xuefeng X Huang Ke K Wu Wei W Fu Junfen J Li Yangxi Y Polychronakos Constantin C Dong Guan-Ping GP
BMJ open diabetes research & care 20201001 1
<h4>Introduction</h4>Loss-of-function mutations in tRNA methyltransferase 10 homologue A (<i>TRMT10A</i>), a tRNA methyltransferase, have recently been described as a monogenic cause of early-onset diabetes with microcephaly, epilepsy and intellectual disability.<h4>Research design and methods</h4>We report a Chinese young patient who was diagnosed with diabetes mellitus as a result of a <i>TRMT10A</i> mutation.<h4>Results</h4>A homozygous mutation c.496-1G>A in <i>TRMT10A</i> was identified usi ...[more]