ArticleAmerican journal of human genetics2006
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 111 citations in OpenAlex.
- LEF1 gene mutation impairs the intestinal barrier and causes diarrhea.Molecular and cellular pediatrics · 2026Article
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- Diet and Management of Diarrhea.Indian journal of pediatrics · 2024Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Review
- Hydrogen Breath Tests: Are They Really Useful in the Nutritional Management of Digestive Disease?Nutrients · 2021Review
- Carbohydrate Intolerance and Disaccharidase Measurement - a Mini-Review.The Clinical biochemist. Reviews · 2019Review
- Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.Nutrients · 2019Review
- Advances in Evaluation of Chronic Diarrhea in Infants.Gastroenterology · 2018Review
- Estimating Time to the Common Ancestor for a Beneficial Allele.Molecular biology and evolution · 2018Article
- Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.Nature genetics · 2017Article
- Review
- The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders.Disease models & mechanisms · 2016Review
- The Diverse Forms of Lactose Intolerance and the Putative Linkage to Several Cancers.Nutrients · 2015Review
- A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.BMC gastroenterology · 2015Article
- Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene.BMC gastroenterology · 2015Article
- Lactose malabsorption testing in daily clinical practice: a critical retrospective analysis and comparison of the hydrogen/methane breath test and genetic test (c/t-13910 polymorphism) results.Gastroenterology research and practice · 2014Article
- Lactose malabsorption and intolerance: What should be the best clinical management?World journal of gastrointestinal pharmacology and therapeutics · 2012Article
- Congenital diarrheal disorders: an updated diagnostic approach.International journal of molecular sciences · 2012Review
- Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).BMC gastroenterology · 2009Article
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital lactase deficiency (CLD) is a severe gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. We initially assigned the CLD locus by linkage and linkage disequilibrium on 2q21 in 19 Finnish families. Here we report the molecular background of CLD via characterization of five distinct mutations in the coding region of the lactase (LCT) gene. Twenty-seven patients out of 32 (84%) were homozygous for a nonsense mutation, c.4170T-->A (Y1390X), designated "Fin(major)." Four rare mutations--two that result in a predicted frameshift and early truncation at S1666fsX1722 and S218fsX224 and two point mutations that result in substitutions Q268H and G1363S of the 1,927-aa polypeptide--confirmed the lactase mutations as causative for CLD. These findings facilitate genetic testing in clinical practice and enable genetic counseling for this severe disease. Further, our data demonstrate that, in contrast to common adult-type hypolactasia (lactose intolerance) caused by a variant of the regulatory element, the severe infancy form represents the outcome of mutations affecting the structure of the protein inactivating the enzyme.
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