Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.

European Journal of Human Genetics : EJHG
Mariona Font-LlitjósVirginia Nunes

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 rearra...Continue Reading

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Citations

Feb 11, 2010·European Journal of Human Genetics : EJHG·Elena AllerJosé M Millán
Nov 25, 2014·Molecular Genetics and Metabolism Reports·Jennifer E PoseyBrendan H Lee
Mar 10, 2012·Molecular Genetics and Metabolism·Hélène Ogier de BaulnyCarlo Dionisi-Vici
Feb 11, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Gianfranco SebastioGeneroso Andria
Jan 10, 2012·Molecular Genetics and Metabolism·Maaria TringhamJuha Mykkänen
Oct 24, 2017·Pediatric Pulmonology·Guoqing Zhang, Ling Cao
Oct 28, 2019·International Journal of Molecular Sciences·Susanna BodoyManuel Palacín
Apr 7, 2020·European Journal of Human Genetics : EJHG·Diego MartinelliCarlo Dionisi-Vici
Jan 7, 2017·Orphanet Journal of Rare Diseases·Wladimir MauhinPascale de Lonlay
Nov 1, 2018·Journal of Animal Science and Biotechnology·Shihai ZhangWutai Guan
Jun 20, 2019·Journal of Human Genetics·Atsuko Noguchi, Tsutomu Takahashi
Aug 31, 2012·The Neurologist·Justyna Paprocka, Ewa Jamroz
Nov 3, 2020·Translational Science of Rare Diseases·Firas AlqarajehCarlos R Ferreira

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