Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients
| Autor: | Nada Al Tassan, Mohamed Al Hamed, Ahmad Adi, Bassam Bin Abbas, Dana Bakheet |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
lcsh:QH426-470
Population Bioinformatics medicine.disease_cause Genetic analysis ABCC8 Article Exon ABCC8 gene Genetics medicine splice deletion KCNJ11 gene Hyperinsulinemic hypoglycemia education persistent hyperinsulinemic hypoglycemia of infancy Gene Genetics (clinical) education.field_of_study biology business.industry lcsh:Genetics PHHI biology.protein business polymorphisms |
| Zdroj: | Genes Volume 6 Issue 2 Pages 206-215 Genes, Vol 6, Iss 2, Pp 206-215 (2015) |
| ISSN: | 2073-4425 |
| Popis: | The autosomal recessive form of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is associated with mutations in either ABCC8 or KCNJ11 genes. In the present study, we describe the clinical features and results of genetic analysis of 13 Saudi Arabian patients with PHHI. Clinically, most patients presented with infantile seizures and/or developmental delay, with a subset of patients who were also found to have abnormal brain imaging and electrophysiological studies. Interestingly no coding pathogenic mutations were identified in these two genes by direct sequencing. However, two splice variants were identified in ABCC8 gene in two patients, and a large deletion of exons 1-22 of the ABCC8 gene was identified in three patients. Our data shows that large deletions in ABCC8 gene are the common genetic mechanism in the Saudi population. |
| Databáze: | OpenAIRE |
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