ArticleEuropean journal of human genetics : EJHG2009
Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 36 citations in OpenAlex.
- Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.Current research in physiology · 2025Review
- Membranoproliferative glomerulonephritis in a patient with lysinuric protein intolerance: lesson for the clinical nephrologist.Journal of nephrology · 2025Article
- Article
- A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.Heliyon · 2024Article
- Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.Advances in experimental medicine and biology · 2021Review
- Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.Frontiers in pediatrics · 2021Article
- A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.Human molecular genetics · 2020Article
- Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.Translational science of rare diseases · 2020Article
- InducibleInternational journal of molecular sciences · 2019Article
- Overview of symptoms and treatment for lysinuric protein intolerance.Journal of human genetics · 2019Review
- Recent progress of porcine milk components and mammary gland function.Journal of animal science and biotechnology · 2018Review
- New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.Pediatric pulmonology · 2017Article
- Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.Orphanet journal of rare diseases · 2017Article
- Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.Molecular genetics and metabolism reports · 2015Article
- Lysinuric Protein Intolerance Presenting with Multiple Fractures.Molecular genetics and metabolism reports · 2014Article
- First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.JIMD reports · 2011Article
- LINE dancing in the human genome: transposable elements and disease.Genome medicine · 2009Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysinuric protein intolerance (LPI) is a rare autosomal inherited disease caused by defective cationic aminoacid transport 4F2hc/y(+)LAT-1 at the basolateral membrane of epithelial cells in the intestine and kidney. LPI is a multisystemic disease with a variety of clinical symptoms such as hepatosplenomegaly, osteoporosis, hypotonia, developmental delay, pulmonary insufficiency or end-stage renal disease. The SLC7A7 gene, which encodes the y(+)LAT-1 protein, is mutated in LPI patients. Mutation analysis of the promoter localized in intron 1 and all exons of the SLC7A7 gene was performed in 11 patients from 9 unrelated LPI families. Point mutation screening was performed by exon direct sequencing and a new multiplex ligation probe amplification (MLPA) assay was set up for large rearrangement analysis. Eleven SLC7A7-specific mutations were identified, seven of them were novel: p.L124P, p.C425R, p.R468X, p.Y274fsX21, c.625+1G>C, DelE4-E11 and DelE6-E11. The novel large deletions originated by the recombination of Alu repeats at introns 3 and 5, respectively, with the same AluY sequence localized at the SLC7A7 3' region. The novel MLPA assay is robust and valuable for LPI molecular diagnosis. Our results suggest that genomic rearrangements of SLC7A7 play a more important role in LPI than has been reported, increasing the detection rate from 5.1 to 21.4%. Moreover, the 3' region AluY repeat could be a recombination hot spot as it is involved in 38% of all SLC7A7 rearranged chromosomes described so far.
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