ABCMdb

PMID: 25056759

Hu M, Yuen YP, Kwok JS, Griffith JF, Tomlinson B
Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia.
J Atheroscler Thromb. 2014;21(9):989-95. Epub 2014 Jul 24., [PubMed]

Sentences

No. Mutations Sentence Comment

10 ABCG8 p.Leu650Arg A known mutation, c.490C&#ff1e;T (p. Arg164&#ff0a; ), in exon 4 and a novel mutation, c.1949T&#ff1e;G (p.Leu650Arg), in exon 13 of ABCG8 were detected in the proband and her sister, who had elevated sterols but low LDL-C levels and no xanthomas. Login to comment 49 ABCG8 p.Leu650Arg ABCG8 p.Leu650Arg The c.1949T&#ff1e;G is a novel missense change that is predicted to cause a substitution of leucine at position 650 by arginine (p.Leu650Arg). Login to comment 82 ABCG8 p.Pro231Thr ABCG8 p.Arg263Gln Discussion Previous studies have demonstrated that most Japanese and Chinese probands with sitosterolaemia have defects in ABCG56, 8, 9) , although mutations of Arg263Gln/Pro231Thr in ABCG8 have been reported in one Chinese patient8) . Login to comment 84 ABCG8 p.Leu650Arg However, among the present cases of sitosterolaemia, we found one known mutation (p.Arg164&#ff0a; ) in exon 4, and a novel mutation, p.Leu650Arg, in exon 13 of ABCG8. Login to comment 85 ABCG8 p.Leu650Arg The Arg164&#ff0a; mutation in ABCG8 has previously been reported in a South African family of Indian Asian origin8) , whereas this is the first report of the p.Leu650Arg mutation in patients with sitosterolaemia. Login to comment