ArticleCMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne2015
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
Article in CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 45 citations in OpenAlex.
- Dietary effect on glucose homeostasis is modulated by a loss-of-function variant in the sucrase-isomaltase gene: a randomised, dietary crossover intervention in Inuit.Diabetologia · 2026Trial
- Food Hypersensitivity: Distinguishing Allergy from Intolerance, Main Characteristics, and Symptoms-A Narrative Review.Nutrients · 2025Review
- Article
- Personal experiences of living with sucrose intolerance and attitudes towards genetic research in Greenland - a user study.International journal of circumpolar health · 2024Article
- Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function.The application of clinical genetics · 2024Article
- Comparative physiological anthropogeny: exploring molecular underpinnings of distinctly human phenotypes.Physiological reviews · 2023Review
- Intestinal Disaccharidase Deficiency in Adults: Evaluation and Treatment.Current gastroenterology reports · 2023Review
- Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives.The application of clinical genetics · 2023Review
- Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic.The Journal of experimental medicine · 2022Article
- The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2021Observational
- The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.NPJ genomic medicine · 2021Article
- Two Novel Mutations in theFrontiers in pediatrics · 2021Article
- Prevalence of Disaccharidase Deficiency in Adults With Unexplained Gastrointestinal Symptoms.Journal of neurogastroenterology and motility · 2020Article
- 13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency.Journal of pediatric gastroenterology and nutrition · 2018Article
- Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.Journal of pediatric gastroenterology and nutrition · 2017Article
- The Effect of an Extreme and Prolonged Population Bottleneck on Patterns of Deleterious Variation: Insights from the Greenlandic Inuit.Genetics · 2017Article
- Review
- Old meets new: identifying founder mutations in genetic disease.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2015Article
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9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundCongenital sucrase-isomaltase deficiency is a rare hereditary cause of chronic diarrhea in children. People with this condition lack the intestinal brush-border enzyme required for digestion of di- and oligosaccharides, including sucrose and isomaltose, leading to malabsorption. Although the condition is known to be highly prevalent (about 5%-10%) in several Inuit populations, the genetic basis for this has not been described. We sought to identify a common mutation for congenital sucrase-isomaltase deficiency in the Inuit population.
methodsWe sequenced the sucrase-isomaltase gene, SI, in a single Inuit proband with congenital sucrase-isomaltase deficiency who had severe fermentative diarrhea and failure to thrive. We then genotyped a further 128 anonymized Inuit controls from a variety of locales in the Canadian Arctic to assess for a possible founder effect.
resultsIn the proband, we identified a novel, homozygous frameshift mutation, c.273_274delAG (p.Gly92Leufs*8), predicted to result in complete absence of a functional protein product. This change was very common among the Inuit controls, with an observed allele frequency of 17.2% (95% confidence interval [CI] 12.6%-21.8%). The predicted Hardy-Weinberg prevalence of congenital sucrase-isomaltase deficiency in Inuit people, based on this single founder allele, is 3.0% (95% CI 1.4%-4.5%), which is comparable with previous estimates.
interpretationWe found a common mutation, SI c.273_274delAG, to be responsible for the high prevalence of congenital sucrase-isomaltase deficiency among Inuit people. Targeted mutation testing for this allele should afford a simple and minimally invasive means of diagnosing this condition in Inuit patients with chronic diarrhea.
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