ABSTRACT
Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease characterized by insulin deficiency and loss of pancreatic islet ß-cells. The objective of this study is to identify de novo mutations in 13 trios from singleton families that contribute to the genetic basis of T1DM through the application of whole-exome sequencing (WES). Of the 13 families sampled for this project, 12 had de novo variants, with Family 7 having the highest number (nine) of variants linked to T1DM/autoimmune pathways, whilst Family 4 did not have any variants past the filtering steps. There were 10 variants of 7 genes reportedly associated with T1DM (MST1; TDG; TYRO3; IFIHI; GLIS3; VEGFA; TYK2). There were 20 variants of 13 genes that were linked to endocrine, metabolic, or autoimmune diseases. Our findings demonstrate that trio-based WES is a powerful approach for identifying new candidate genes for the pathogenesis of T1D. Genotyping and functional annotation of the discovered de novo variants in a large cohort is recommended to ascertain their association with disease pathogenesis.
ABSTRACT
This communication highlights the unique features of insulin injection technique in the paediatric age group. It describes the anatomical, neurodevelopmental and psychosocial characteristics of children and adolescents of various age groups. These are correlated to highlight 'best practices' or 'injection manner' which diabetes care providers and care givers should observe, in order to achieve a 'happy' and healthy insulin injection experience for the child. The softer side of paediatric insulin injection technique adds to existing guidelines on insulin delivery. It encourages research on the special needs and challenges of children and adolescents living with diabetes.
