ArticleAmerican journal of human genetics2000
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 77 citations in OpenAlex.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.Orphanet journal of rare diseases · 2026Article
- CaOx crystal nuclei are formed in rat outer cortex proximal tubules by a potential fibrinogen-dependent mechanism.PloS one · 2025Article
- Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.Current research in physiology · 2025Review
- Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.Disease models & mechanisms · 2023Article
- Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.The Journal of clinical endocrinology and metabolism · 2021Article
- Lysinuric protein intolerance mimickingMolecular genetics and metabolism reports · 2021Article
- 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
- Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.Clinical case reports · 2020Article
- Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.Journal of human genetics · 2019Article
- Overview of symptoms and treatment for lysinuric protein intolerance.Journal of human genetics · 2019Review
- [Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Analysis of LPI-causing mutations on y+LAT1 function and localization.Orphanet journal of rare diseases · 2019Article
- Respiratory manifestations in patients with inherited metabolic diseases.European respiratory review : an official journal of the European Respiratory Society · 2013Review
- The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.Journal of Korean medical science · 2012Article
- First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.JIMD reports · 2011Article
- Genetic Basis of Children's Interstitial Lung Disease.Pediatric allergy, immunology, and pulmonology · 2010Article
- SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance.Orphanet journal of rare diseases · 2009Article
- Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.European journal of human genetics : EJHG · 2009Article
- First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.Journal of applied genetics · 2007Article
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Authors and funding
18 authors at 9 institutions in 4 countries.
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Abstract
Lysinuric protein intolerance (LPI) is a rare autosomal recessive defect of cationic amino acid transport caused by mutations in the SLC7A7 gene. We report the genomic structure of the gene and the results of the mutational analysis in Italian, Tunisian, and Japanese patients. The SLC7A7 gene consists of 10 exons; sequences of all of the exon-intron boundaries are reported here. All of the mutant alleles were characterized and eight novel mutations were detected, including two missense mutations, 242A-->C (M1L) and 1399C-->A (S386R); a nonsense mutation 967G-->A (W242X); two splice mutations IVS3 +1G-->A and IVS6 +1G-->T; a single-base insertion, 786insT; and two 4-bp deletions, 455delCTCT and 1425delTTCT. In addition, a previously reported mutation, 1625insATCA, was found in one patient. It is noteworthy that 242A-->C causes the change of Met1 to Leu, a rare mutational event previously found in a few inherited conditions. We failed to establish a genotype/phenotype correlation. In fact, both intrafamilial and interfamilial phenotypic variability were observed in homozygotes for the same mutation. The DNA-based tests are now easily accessible for molecular diagnosis, genetic counseling, and prenatal diagnosis of LPI.
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