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[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree]
Zi-di Xu1, He-fen Yu, Yan-mei Sang
1Capital Medical University, Beijing, China.
Insights
Genetic mutations in the ABCC8 and GLUD1 genes are key causes of congenital hyperinsulinism (CHI) in Chinese children. Specific mutations identified may be inherited paternally or occur de novo.
Area of Science:
- Genetics
- Pediatrics
- Molecular Biology
Context:
- Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by persistent hypoglycemia.
- Genetic mutations are the primary cause of CHI, affecting insulin secretion regulation.
- Understanding the genetic basis is crucial for diagnosis and management of CHI.
Purpose:
- To investigate mutations in the ABCC8, KCNJ11, and GLUD1 genes in 11 Chinese children diagnosed with CHI.
- To identify specific gene variants associated with the disease in this population.
- To explore the inheritance patterns of identified mutations.
Summary:
- Genetic analysis of 11 CHI patients and their parents revealed mutations in the ABCC8 and GLUD1 genes.
- Specific ABCC8 mutations (P629PfsX17, W288X, A640V, Q1196X) and a GLUD1 mutation (R269H) were identified in affected children and/or their parents.
- No mutations were found in the KCNJ11 gene or in 7 of the patients.
Impact:
- ABCC8 gene mutations are identified as the predominant pathogenic mechanism for CHI in Chinese children.
- Specific heterozygous mutations in ABCC8 and GLUD1 are suggested to cause CHI in the Chinese population.
- The study indicates that CHI mutations can be paternally inherited or arise de novo.
Objective:
To explore the ABCC8, KCNJ11, and GLUD1 gene mutations of the 11 patients diagnosed as congenital hyperinsulinism (CHI).
Methods:
A total of 11 CHI children hospitalized in Beijing Children's Hospital from November 2008 to February 2012 and their parents were chosen as the study subjects. Direct sequencing of PCR-DNA was used to analyze the 39 exons of ABCC8 gene, non-translational region and exon of KCNJ11 gene and 6, 7, 10, 11 and 12 exons of GLUD1 gene.
Results:
An P629PfsX17 heterozygous mutation of ABCC8 gene was detected in case 1 and his father, an W288X heterozygous mutation of ABCC8 gene was detected in case 4 and his father, A640V and Q1196X mutations in ABCC8 gene in case 5 whose father only carried the Q1196X mutation. In case 6 and his father, an R269H mutation was found in GLUD1 gene. The genotype of 4 children's mothers was normal. No mutations were found in other 7 patients and their parents.
Conclusions:
The ABCC8 gene mutations are the main pathogenic mechanisms of Chinese children with CHI. In Chinese, P629PfsX17, W288X, A640V and Q1196X heterozygous mutation of ABCC8 gene and R269H heterozygous mutation of GLUD1 gene may lead to CHI. The inheritance mode of the mutations may be paternally or de novo.
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