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Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients

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College of Medicine, Alfaisal University, P.O. Box 50297, Riyadh 11533, Saudi Arabia
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Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh 11211, Saudi Arabia
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Department of Pediatrics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, Riyadh 11211, Saudi Arabia
*
Author to whom correspondence should be addressed.
Academic Editor: J. Peter W. Young
Genes 2015, 6(2), 206-215; https://doi.org/10.3390/genes6020206
Received: 16 June 2014 / Revised: 4 March 2015 / Accepted: 13 March 2015 / Published: 13 April 2015
(This article belongs to the Section Human Genomics and Genetic Diseases)
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. View Full-Text
Keywords: PHHI; persistent hyperinsulinemic hypoglycemia of infancy; polymorphisms; deletion; ABCC8 gene; KCNJ11 gene PHHI; persistent hyperinsulinemic hypoglycemia of infancy; polymorphisms; deletion; ABCC8 gene; KCNJ11 gene
MDPI and ACS Style

Adi, A.; Abbas, B.B.; Hamed, M.A.; Tassan, N.A.; Bakheet, D. Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. Genes 2015, 6, 206-215.

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