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Case Reports
. 2017 Nov;52(11):E94-E96.
doi: 10.1002/ppul.23760.

New Mutations in the SLC7A7 Gene of Two Chinese Sisters With Lysinuric Protein Intolerance

Free PMC article
Case Reports

New Mutations in the SLC7A7 Gene of Two Chinese Sisters With Lysinuric Protein Intolerance

Guoqing Zhang et al. Pediatr Pulmonol. .
Free PMC article


Lysinuric protein intolerance (LPI) is an inherited aminoaciduria with an autosomal recessive mode of inheritance.The first two cases of sisters being diagnosed with LPI in China is contained within this report. In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: deletion of c.1387: del C and IVS4+1C>T. One patient was treated with inhaled rGM-CSF for 1.5 years at 5 μg/kg two times a day. Her condition is improving with no side effects.

Keywords: GM-CSF; gene mutation; lysinuric protein intolerance (LPI).


Figure 1
Figure 1
(A) At admission, mutiple small cystic lucency in subpleural and crazy paving pattern. (B) 1.5 years later, areas of ground glass attenuation are no longer visible
Figure 2
Figure 2
(A) Five years before admission, multiple cystic lucency in subpleural and crazy paving pattern. (B) At admission, nodular opacities on the apicoposterior of the left lung lobe, multiple cystic lucency in subpleural of both upper lobes. (C) A 1.5 years after admission, no significant improvement compared to at admission

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    1. Noguchi A, Shoji Y, Koizumi A, et al. SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Hum Mutat. 2000; 15:367–372. - PubMed
    1. Borsani G, Bassi MT, Sperandeo MP, et al. SLC7A7, encoding a putative permease‐related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999; 21:297–301. - PubMed
    1. Font‐Llitjós M, Rodríguez‐Santiago B, Espino M, et al. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. Eur J Hum Genet. 2009; 17:71 –79. - PMC - PubMed
    1. Smaria P, Genneroso A, Gianfranco S. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008; 29:14–21. - PubMed
    1. Glass CK, Witztum JL. Atherosclerosis. the road ahead. Cell. 2001; 104:503–516. - PubMed

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