ABCMdb

ABCG8 p.Glu423Asp

Predicted by SNAP2:	A: D (66%), C: D (75%), D: D (75%), F: D (85%), G: D (85%), H: D (91%), I: D (71%), K: D (85%), L: D (75%), M: D (75%), N: D (80%), P: D (91%), Q: D (66%), R: D (91%), S: D (63%), T: D (80%), V: D (80%), W: D (91%), Y: D (91%),
Predicted by PROVEAN:	A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, R: N, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Liver transplantation in a patient with sitosterol... Gastroenterology. 2006 Feb;130(2):542-7. Miettinen TA, Klett EL, Gylling H, Isoniemi H, Patel SB
Liver transplantation in a patient with sitosterolemia and cirrhosis.
Gastroenterology. 2006 Feb;130(2):542-7., [PMID:16472606]

Abstract [show]
Sitosterolemia (MIM 210250) is a rare genetic disorder caused by disruption of the normal mechanisms that regulate dietary cholesterol absorption and prevent the accumulation of noncholesterol sterols. As a result of this defect, affected individuals accumulate high concentrations of plant sterols in plasma and tissues. They present clinically with tendon or tuberoeruptive xanthomas, premature coronary artery disease, and/or hemolytic anemia. Two genes, ABCG5 and ABCG8, compose the STSL locus, and complete mutation in either, but not both, results in disease. The expression of these genes is confined to the intestine and liver. They are thought to function as sterol efflux pumps. It is not clear which organ, liver or intestine, is of greater importance in maintaining sterol balance with respect to noncholesterol sterols. We report here a case of a patient who presented with "chronic active liver disease" and was found to have sitosterolemia by chance and subsequently underwent orthotopic liver transplantation. Following transplantation, the grossly elevated pretransplantation serum plant sterol levels decreased to values only slightly higher than those of the patient's heterozygous father. This case highlights 2 important features: (1) The liver functions as the predominant organ for maintaining noncholesterol sterol balance (because the intestinal defect was not altered), and (2) a new clinical feature of undiagnosed sitosterolemia may be "idiopathic" liver disease. Because the diagnosis of sitosterolemia is based on specialized plasma analyses, we would propose that some consideration to this diagnosis should be given in appropriate cases.

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Sentences [show]
No. Sentence Comment
76 Genetic analyses of DNA from the proband showed that he carried the following 2 mutations: W361X (G1173A) and E423D (G1359T) in ABCG8. Login to comment
78 Although the W361X mutation has been previously reported, the E423D has not been described and is novel.18 In more than 100 normal alleles examined, E423D was not detected. Login to comment