Shu-Qin Lei1, Jie-Ying Wang1, Rong-Min Li1, Jie Chang1, Zhen Li1, Li Ren2, Yan-Mei Sang2. 1. Department of Endocrinology, Baoding Children's Hospital, Baoding Key Laboratory of Clinical Research on Children's Respiratory and Digestive Diseases Bao Ding 071000, Hebei, China. 2. Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health Beijing 100045, China.
Abstract
OBJECTIVE: This study aims to report the clinical features and gene mutation of a rare MODY10 patient in China. METHODS: This study summarizes the clinical data of a MODY10 child in the Endocrine Department of our hospital and an analysis and discussion of the results of the gene sequencing of the child. RESULTS: The child was a two-year-old boy. The main reason for his visit to our hospital was "founding hyperglycemia for 3 days". The fasting blood glucose was between 8.1-10.7 mmol/L, and two-hour postprandial blood glucose was between 10.6-12.6 mmol/L. Glycosylated hemoglobin was 8.5%, fasting C-peptide was 0.6 ng/mL, fasting insulin was 2.9 μIU/mL, and the islet antibody series were all negative. Whole-genome/exon sequencing results: Exon 3 of the insulin gene in the child carried a c.309-314del CCAGCT insGCGC heterozygous mutation. The mutation was a nonsense mutation, and family sequencing showed that the mutation originated from the mother of the child. The mother of the child was diagnosed with diabetes when she was a year old and developed bilateral fundus hemorrhage and right retinal detachment at the age of 23. CONCLUSION: Among Chinese children, the insulin gene c.309-314del CCAGCT insGCGC mutation may induce MODY10. For diabetic children with a negative islet autoantibody, gene detection and analysis is helpful for the diagnosis and typing of MODY. AJTR
OBJECTIVE: This study aims to report the clinical features and gene mutation of a rare MODY10patient in China. METHODS: This study summarizes the clinical data of a MODY10child in the Endocrine Department of our hospital and an analysis and discussion of the results of the gene sequencing of the child. RESULTS: The child was a two-year-old boy. The main reason for his visit to our hospital was "founding hyperglycemia for 3 days". The fasting blood glucose was between 8.1-10.7 mmol/L, and two-hour postprandial blood glucose was between 10.6-12.6 mmol/L. Glycosylated hemoglobin was 8.5%, fasting C-peptide was 0.6 ng/mL, fasting insulin was 2.9 μIU/mL, and the islet antibody series were all negative. Whole-genome/exon sequencing results: Exon 3 of the insulin gene in the child carried a c.309-314del CCAGCT insGCGC heterozygous mutation. The mutation was a nonsense mutation, and family sequencing showed that the mutation originated from the mother of the child. The mother of the child was diagnosed with diabetes when she was a year old and developed bilateral fundus hemorrhage and right retinal detachment at the age of 23. CONCLUSION: Among Chinese children, the insulin gene c.309-314del CCAGCT insGCGC mutation may induce MODY10. For diabeticchildren with a negative islet autoantibody, gene detection and analysis is helpful for the diagnosis and typing of MODY. AJTR
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