Dubin-Johnson

Deficiency of Factor VII is relatively rare and inherited as an autosomal recessive disorder. Deficiency of Factor VII has been reported to be associated with bond abnormal bleeding and thrombotic tendencies. Deep vein thrombosis and pulmonary emboli have been reported in affected individuals. There is a very high frequency of Factor VII deficiency in people with the Dubin-Johnson syndrome, which is a congenital disorder of Hver function. 

Known genetic lesions in MRP2 causing Dubin-Johnson syndrome are varied and range from point mutations to base pair deletions leading to missense muta-... 

Kartenbeck J, Leuschner U, Mayer R, Keppler D. Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome. Hepatology 1996 23(5) 1061—1066. 

Paulusma CC, Kool M, Bosma PJ, Scheffer GL, ter Borg F, Scheper RJ et al. A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome. Hepatology 1997 25(6) 1539— 1542. 

Tsujii H, Konig J, Rost D, Stockel B, Leuschner U, Keppler D. Exon-intron organization of the human multidrug-re-sistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. Gastroenterology 1999 117(3) 653—660. 

Spring H, Brom M, Keppler D. Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome. Hepatology 2000 32(6) 1317-1328. 

Toh S, Wada M, Uchiumi T, Inokuchi A, Makino Y, Horie Y et al. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/ cMOAT) and mutations in the ATP-bind-ing-cassette region in Dubin-Johnson syndrome. Am J Hum Genet 1999 64(3)739-746. 

Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K et al. Mutations in the canalicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia I I/Dubin-Johnson syndrome. Hum Mol Genet 1998 7(2) 203-207. 

Transport to intestine affected in Dubin-Johnson (black pigmentation in liver) Rotor syndrome... 

Shoda J, Suzuki H, Suzuki H, Sugiyama Y, Hirouchi M, Utsunomiya H, Oda K, Kawamoto T, Matsuzaki Y, Tanaka N. Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. Hepatology Res 2003 27 322-325. 

Mor-Cohen R, Zivelin A, Rosenberg N, Shani M, Muallem S, Seligsohn U. Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome. J Biol Chem 2001 276 36923-36930. 

Wakusawa A, Machida I, Suzuki S, Hayashi H, Yano M, Yoshioka K. Identification of a novel 2026G-C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. J Hum Genet 2003 48 425 429. 

Tate G, Li M, Suzuki T, Mitsuya T. A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. Genes Genet Syst 2002 77 117-121. 

Crigler-Najjar syndrome Dubin-Johnson syndrome... 

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