RESUMO
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.
RESUMO
Floating-Harbor syndrome (FHS) is an autosomal dominant genetic disease caused by SRCAP mutation. This article reports the clinical features of a boy with FHS. The boy, aged 11 years and 7 months, attended the hospital due to short stature for more than 8 years and had the clinical manifestations of unusual facial features (triangularly shaped face, thin lips and long eyelashes), skeletal dysplasia (curvature finger), expressive language disorder, and retardation of bone age. Genetic detection revealed a novel heterozygous mutation, c.7330 C>T(p.R2444X), in the SRCAP gene. The boy was diagnosed with FHS based on these clinical manifestations and gene detection results. FHS is rare in clinical practice, which may lead to missed diagnosis and misdiagnosis, and gene detection may help with the clinical diagnosis of FHS in children.
