ABCMdb

PMID: 17517077

Hayashi H, Wakusawa S, Yano M, Okada T
Genetic background of Japanese patients with adult-onset storage diseases in the liver.
Hepatol Res. 2007 Oct;37(10):777-83. Epub 2007 May 22., [PubMed]

Sentences

No. Mutations Sentence Comment

64 ABCC2 p.Arg393Trp ABCC2 p.Trp709Arg ABCC2 p.Gly676Arg They included the three mutations 1177C > T (R393W), 2026G > C (G676R) and 2125T > C (W709R) first found in our patients.23,49,52 Better understanding of the pathogenesis of hepatic storage disorders provided by gene analysis The genetic backgrounds of Japanese patients with hemochromatosis are now partially clear. Login to comment 76 ABCC2 p.Arg768Trp ABCC2 p.Arg393Trp ABCC2 p.Trp709Arg ABCC2 p.Trp709Arg ABCC2 p.Gly676Arg ABCC2 p.Arg100* ABCC2 p.Arg100* Fifty years after the first identification of lysosomes,1,2 three Table 3 Results of mutation analysis for patients with Dubin-Johnson syndrome Patient Age (years)/Sex MRP2 Mutation 1 Mutation 2 1 21/male 298C > T (R100X) 298C > T (R100X) 2 26/male 1177C > T (R393W) 2302C > T (R768W) 3 23/female 1967 + 2T > C (1901del67: exon 15 skipping) 1967 + 2T > C (1901del67: exon 15 skipping) 4 25/male 1967 + 2T > C (1901del67: exon 15 skipping) 2026G > C (G676R) 5 28/female 2125T > C (W709R) 2125T > C (W709R) 6 28/male 2439 + 2T > C (2272del168: exon 18 skipping) 2439 + 2T > C (2272del168: exon 18 skipping) adult-onset storage disorders of the liver were found to be secondary lysosomal diseases with the genetic defects outside of lysosomes. Login to comment