ABCMdb

PMID: 26616730

Murano T, Yamaguchi T, Tatsuno I, Suzuki M, Noike H, Takanami T, Yoshida T, Suzuki M, Hashimoto R, Maeno T, Terai K, Tokuyama W, Hiruta N, Schneider WJ, Bujo H
Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation.
Clin Chim Acta. 2016 Jan 15;452:167-72. doi: 10.1016/j.cca.2015.11.021. Epub 2015 Nov 23., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCA1 p.Leu1097Pro The patient was shown to be homozygous for a novel mutation (Leu1097Pro) in the central cytoplasmic region of ATP-binding cassette transporter A1 (ABCA1). Login to comment 71 ABCA1 p.Leu1097Pro The patient had a novel homozygous T to C nucleotide substitution in exon 23 resulting in Leu1097Pro. Login to comment 80 ABCA1 p.Leu1097Pro ABCA1 p.Leu1097Pro Gene analysis Direct sequencing of the ABCA1 gene in comparison to a reference sequence (NM_005502) showed that the patient had a novel homozygous T to C nucleotide substitution in exon 23, resulting in Leu1097Pro [c.3290 T N C (p. Leu1097Pro)] (Fig. 2). Login to comment 119 ABCA1 p.Leu1097Pro ABCA1 p.Leu1097Pro The nucleotide substitution results in Leu1097Pro [c.3290 T N C (p. Leu1097Pro)]. Login to comment 123 ABCA1 p.Arg1068His Arg1068His has been identified to cause Tangier disease [24, 25]. Login to comment 124 ABCA1 p.Met1091Thr ABCA1 p.Pro1065Ser The mutations, Pro1065Ser and Met1091Thr, have been shown to disturb the ATP-binding function; these mutations cause FHA [7,19,21, 26]. Login to comment 125 ABCA1 p.Asp1099Tyr Remarkably, Asp1099Tyr also disturbs the ABCA1-mediated cholesterol efflux in skin fibroblasts and causes phenotypes of hypo-alphalipoproteinemia, Tangier disease and FHA, in the patients [23,27]. Login to comment