ABCMdb

PMID: 16029460

Rees DC, Iolascon A, Carella M, O'marcaigh AS, Kendra JR, Jowitt SN, Wales JK, Vora A, Makris M, Manning N, Nicolaou A, Fisher J, Mann A, Machin SJ, Clayton PT, Gasparini P, Stewart GW
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
Br J Haematol. 2005 Jul;130(2):297-309., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCG8 p.Trp361* Three pedigrees showed five new mutations, while two pedigrees showed the common W361X mutation in ABCG8. Login to comment 127 ABCG5 p.Glu77* ABCG5 p.Glu146* Families A and B showed mutations in ABCG5: family A showed E77X (with affected members homozygous), while family B showed E146X and IVS11+3insT. Login to comment 131 ABCG8 p.Trp361* ABCG8 p.Gln271* Affected siblings in family C were compound heterozygous for Q271X and IV8-1G>A, which are both novel, while both affected individuals in families D and E were homozygous for the previously described W361X mutation in ABCG8, which is the single commonest mutation in phytosterolaemia (Berge et al, 2000; Lee et al, 2001b; Lu et al, 2001). Login to comment 174 ABCG5 p.Gln604Glu ABCG5 p.Met622Val ABCG5 p.Glu77* ABCG5 p.Glu146* ABCG8 p.Trp361* ABCG8 p.Trp361* ABCG8 p.Gln271* ABCG8 p.Arg50Cys Family Sitosterol level (lmol/l) ABCG5 ABCG8 A E77X (229G>T) A-I-2 44 m/n A-II-1 1471 m/m A-II-2 17 n/n A-II-3 57 n/n A-II-4 970 m/m A-II-5 625 m/m A-II-9 508 m/m B IVS11+3insT R50C (148C>T) E146X (436G>T), M622V (1864A>G) B-I-1 77 n/n m/n B-I-2 42 m/n n/n B-II-1 2230 m/n m/n B-II-2 2350 m/n m/n B-II-3 137 n/n m/n C Q604E (1810C>G) Q271X (811C>T) IV9-3insT IV8-1G/A C54Y (161G>A) C-I-1 114 m/n n/n m/n m/n C-I-2 29 m/m m/n n/n m/m C-II-1 2100 m/n m/n m/n m/n C-II-2 2580 m/n m/n m/n m/n D W361X (1083G>A) D-I-1 22 m/n D-II-1 715 m/m E W361X (1083G>A) E-I-1 23 m/n E-II-1 1844 m/m E-II-2 21 n/n Mutations are shown in bold and large font. Login to comment 175 ABCG5 p.Gln604Glu ABCG5 p.Arg50Cys Polymorphisms (R50C and Q604E in ABCG5, C54Y in ABCG8) are shown in italics. Login to comment 176 ABCG5 p.Arg50Cys In a survey of normal donors, we found that the R50C substitution in ABCG5 was present in three of 60 individuals (three of 120 chromosomes) while IVS11+3insT was present in none. Login to comment