ABCMdb

PMID: 19723515

Hooper AJ, Robertson K, Ng L, Kattampallil JS, Latchem D, Willsher PC, Thom J, Baker RI, Burnett JR
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.
Clin Chim Acta. 2009 Nov;409(1-2):136-9. doi: 10.1016/j.cca.2009.08.017. Epub 2009 Aug 31., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCA1 p.Arg1270* Case report A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency Amanda J. Hooper a,b , Ken Robertson a , Lydia Ng c , Joseph S. Kattampallil c , Donald Latchem d , Peter C. Willsher e , James Thom f , Ross I. Baker b,f , John R. Burnett a,b, Ìe; a Department of Core Clinical Pathology & Biochemistry, Royal Perth Hospital, Perth, Australia b School of Medicine & Pharmacology, University of Western Australia, Perth, Australia c Department of Histopathology, Western Diagnostic Pathology, Perth, Australia d Coastal Cardiology, Perth, Australia e Mount Hospital, Perth, Australia f Department of Haematology, Royal Perth Hospital, Perth, Australia a b s t r a c t a r t i c l e i n f o Article history: Received 21 May 2009 Received in revised form 31 July 2009 Accepted 24 August 2009 Available online 31 August 2009 Keywords: Tangier disease ABCA1 Mutation Hypoalphalipoproteinaemia The ATP binding cassette transporter A1 (ABCA1) is involved in the regulation of lipid trafficking and export of cholesterol from cells to high density lipoprotein (HDL). Login to comment 6 ABCA1 p.Arg1270* DNA sequence analysis revealed the subject to be a homozygote for a novel ABCA1 mutation c.4121C>T, which changes arginine 1270 to a stop codon (R1270X). Login to comment 7 ABCA1 p.Arg1270* In conclusion, we describe a case of Tangier disease in association with an unrecognised bleeding tendency, in a man homozygous for a novel ABCA1 gene mutation, R1270X. Login to comment 20 ABCA1 p.Arg1270* Here, we report a case of Tangier disease in association with an unrecognised bleeding tendency, in a man homozygous for a novel ABCA1 gene mutation, R1270X. Login to comment 44 ABCA1 p.Arg1270* DNA sequence analysis of the proband's ABCA1 gene revealed that he was homozygous for a novel mutation c.4121C>T, which is predicted to change arginine 1270 to a stop codon (R1270X) (Fig. 3). Login to comment 55 ABCA1 p.Arg1270* Discussion We report a novel ABCA1 gene mutation, R1270X, in a case of Tangier disease with a bleeding tendency. Login to comment 57 ABCA1 p.Arg1270* The R1270X mutation is predicted to truncate ABCA1 such that it is missing the C-terminal ~40% of the protein, which includes the second set of membrane-spanning domains. Login to comment 71 ABCA1 p.Arg1925Gln Of interest, Scott syndrome, an extremely rare bleeding disorder characterised by a failure to expose phosphatidylserine on the surface of platelets, is associated with the ABCA1 missense mutation R1925Q [18]. Login to comment 74 ABCA1 p.Arg1270* In this report, we have described a novel nonsense mutation in ABCA1, R1270X, in Tangier disease associated with an unrecognised bleeding tendency. Login to comment