title: Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.
abstract: 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.
authors: College of Medicine, Alfaisal University, P.O. Box 50297, Riyadh 11533, Saudi Arabia. aadi@alumni.alfaisal.edu.|Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh 11211, Saudi Arabia. aadi@alumni.alfaisal.edu.
authors: Ahmad
authors: A
authors: Adi
authors: Department of Pediatrics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh 11211, Saudi Arabia. benabbas@kfshrc.edu.sa.
authors: Bassam Bin
authors: BB
authors: Abbas
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh 11211, Saudi Arabia. hamed@kfshrc.edu.sa.
authors: Mohamed Al
authors: MA
authors: Hamed
authors: Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh 11211, Saudi Arabia. naltassan@kfshrc.edu.sa.
authors: Nada Al
authors: NA
authors: Tassan
authors: College of Medicine, Alfaisal University, P.O. Box 50297, Riyadh 11533, Saudi Arabia. dbakheet@kfshrc.edu.sa.|Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh 11211, Saudi Arabia. dbakheet@kfshrc.edu.sa.
authors: Dana
authors: D
authors: Bakheet