1. SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption
- Author
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Manal Mohammed, Khalid Alsaleem, Ali Al-Mehaidib, Yasir Al-Suyufi, Mohammed Banemai, Wajeeh Aldekhail, Khushnooda Ramzan, Faiqa Imtiaz, Rabab Allam, Amani Jambi, and Abdulhakim Almuhandes
- Subjects
Male ,0301 basic medicine ,medicine.medical_specialty ,Malabsorption ,Saudi Arabia ,medicine.disease_cause ,Gastroenterology ,03 medical and health sciences ,symbols.namesake ,chemistry.chemical_compound ,Sodium-Glucose Transporter 1 ,0302 clinical medicine ,Malabsorption Syndromes ,030225 pediatrics ,Internal medicine ,Humans ,Medicine ,Allele ,Family history ,Gene ,Sanger sequencing ,Mutation ,SLC5A1 ,biology ,business.industry ,Infant, Newborn ,High-Throughput Nucleotide Sequencing ,Infant ,medicine.disease ,030104 developmental biology ,chemistry ,Child, Preschool ,Galactose ,Pediatrics, Perinatology and Child Health ,biology.protein ,symbols ,Female ,business ,Carbohydrate Metabolism, Inborn Errors - Abstract
Congenital glucose-galactose malabsorption (cGGM) is a rare autosomal recessive disorder, caused by mutations in the SLC5A1 gene, encoding the sodium/glucose cotransporter 1, which may result in severe life-threatening osmotic diarrhea due to the accumulation of unabsorbed sugars in the intestinal lumen. If treated early with elimination of glucose and galactose from the diet, patients usually recover and develop normally. We present clinical and molecular data from 16 unrelated cGGM diagnosed Saudi patients from consanguineous families with majority of them having previous positive family history of cGGM. Sanger sequencing for the full coding regions of SLC5A1 for all patients resulted in the identification of 4 allelic variants in a homozygous state. Two mutations are novel; c.265G>A (p.G89R) and c.1304 G>A (p.G435D), and 2 have been previously reported to cause cGGM, c.765 C>G (p.C255W) and c.1136 G>A (p.R379Q). This is the first report delineating the clinical and molecular basis of cGGM in patients from this region.
- Published
- 2018
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