tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.
Hu LinXuelian ZhouXuefeng ChenKe HuangWei WuJunfen FuYangxi LiConstantin PolychronakosGuan-Ping DongPublished in: BMJ open diabetes research & care (2021)
Our case is the first report in the Asian population. It adds to current knowledge of TRMT10A related with young-onset non-insulin-dependent diabetes and confirms the a single previous report of insulin resistance in this syndrome. Genomic testing should be considered in children with non-insulin-dependent diabetes with intellectual disability and microcephaly. A clear genetic diagnosis is helpful for early detection and treatment addressing insulin resistance.
Keyphrases
- intellectual disability
- type diabetes
- glycemic control
- insulin resistance
- autism spectrum disorder
- cardiovascular disease
- zika virus
- high fat diet
- case report
- adipose tissue
- polycystic ovary syndrome
- metabolic syndrome
- healthcare
- young adults
- skeletal muscle
- weight loss
- copy number
- gene expression
- combination therapy
- middle aged
- dna methylation