(2023). Screening for Frequency of Occurrence of Mutations of Exon 28 of ABCC8 Gene in Egyptian Patients with Congenital Hyperinsulinism. test, 93(1), 7527-7534. doi: 10.21608/ejhm.2023.326649
. "Screening for Frequency of Occurrence of Mutations of Exon 28 of ABCC8 Gene in Egyptian Patients with Congenital Hyperinsulinism". test, 93, 1, 2023, 7527-7534. doi: 10.21608/ejhm.2023.326649
(2023). 'Screening for Frequency of Occurrence of Mutations of Exon 28 of ABCC8 Gene in Egyptian Patients with Congenital Hyperinsulinism', test, 93(1), pp. 7527-7534. doi: 10.21608/ejhm.2023.326649
Screening for Frequency of Occurrence of Mutations of Exon 28 of ABCC8 Gene in Egyptian Patients with Congenital Hyperinsulinism. test, 2023; 93(1): 7527-7534. doi: 10.21608/ejhm.2023.326649

Screening for Frequency of Occurrence of Mutations of Exon 28 of ABCC8 Gene in Egyptian Patients with Congenital Hyperinsulinism

The Egyptian Journal of Hospital Medicine
Article 95, Volume 93, Issue 1, October 2023, Pages 7527-7534    PDF (714.25 K)
Document Type: Original Article
DOI: 10.21608/ejhm.2023.326649
Abstract
Background: Congenital hyperinsulinism (CHI) is a severe inherited form of hyperinsulinemic hypoglycemia (HH). It can occur as a result of several gene mutations. The most prevalent are mutations of the ABCC8 gene, which codes for the sulphonylurea receptor 1 subunit (SUR-1) of the potassium-sensitive ATP channels located on the pancreatic B-cells.
Aim of the study: to identify mutations of exon 28 of the ABCC8 gene in patients with CHI.
Patients and Methods: Thirteen patients diagnosed with CHI, aged from 1 day to 18 years, following up in the Diabetes, Endocrine and Metabolism Pediatric Unit, Abo ElReesh Children’s Hospital, Cairo University were recruited. Clinical and biochemical data were collected through history taking, physical examination, and revising patients’ medical records. Genetic analysis of exon 28 of the ABCC8 gene was done using DNA sequencing.
Results: The results of the DNA sequencing of exon 28 of the ABCC8 gene and its intronic boundaries detected no abnormalities in the study group except for one case which revealed an intronic homozygous variant on intron 28 (rs1954399854) of uncertain significance. Conclusion: Mutations of the ABCC8 gene account for around 40-50% of CHI cases. To our knowledge, there are no sufficient studies in the Egyptian population to detect mutations of the ABCC8 gene, which necessitated conducting this study. Exon 28 of the ABCC8 gene was the only exon tested due to limited resources and self-funding. This did not reveal significant mutations. Further research is warranted to detect other ABCC8 gene mutations in the Egyptian population.
 
Keywords
CHI; Octreotide; Exon 28 ABCC8 gene
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