A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.
Jing JinXinxin LiangJie WeiLing-Ling XuPublished in: BioMed research international (2021)
We report for the first time a new splicing mutation on the insulin receptor gene at the 7th intron (c.1610+1G > A), which leads to type A insulin resistance syndrome. In clinically suspected patients with polycystic ovary syndrome, if there are extremely high blood levels of insulin in the blood, genetic testing should be performed to detect insulin receptor gene mutation of type A insulin resistance syndrome.
Keyphrases
- insulin resistance
- type diabetes
- glycemic control
- adipose tissue
- high fat diet
- metabolic syndrome
- polycystic ovary syndrome
- end stage renal disease
- case report
- skeletal muscle
- newly diagnosed
- ejection fraction
- high fat diet induced
- chronic kidney disease
- prognostic factors
- early onset
- pulmonary embolism
- binding protein
- genome wide identification
- peritoneal dialysis
- transcription factor
- patient reported outcomes