Guo, Zhigang and Inazu, Akihiro and Yu, Wenxin and Suzumura, Taeko and Okamoto, Michiko and Nohara, Atsushi and Higashikata, Toshinori and Sano, Ryuichi and Wakasugi, Kazuyoshi and Hayakwa, Tetsuo and Yoshida, Koujiro and Suehiro, Tadashi and Schmitz, Gerd and Mabuchi, Hiroshi (2002) Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease. JOURNAL OF HUMAN GENETICS, 47 (6). pp. 325-329. ISSN 1434-5161
Full text not available from this repository. (Request a copy)Abstract
Tangier disease (TD) is a rare autosomal recessive disease characterized by plasma high-density lipoprotein deficiency caused by an ATP-binding cassette transporter A1 (ABCA1) gene mutation. We describe three different mutations in Japanese patients with TD. The first patient was homozygous for double deletions of 1221 bp between intron 12 and 14 and 19.9 kb between intron 16 and 31. The breakpoint sequence analyses suggest that it is a simultaneous event caused by double-loop formation through multiple Alu. The second patient was homozygous for a novel mutation of A3198C in exon 19, resulting in Asn935His. The third patient was homozygous for A3199G of exon 19 that leads to Asn935Ser, which is the same mutation found in German and Spanish families. Both Asn mutations involved Walker A motif of the first nucleotide-binding fold.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DENSITY-LIPOPROTEIN DEFICIENCY; CHOLESTEROL EFFLUX; CLUSTER; FAMILY; REARRANGEMENT; INVERSION; SEQUENCE; COMMON; Tangier disease; ABCA1; large deletion; double deletions; missense mutation; Walker A |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 16 Nov 2021 11:16 |
| Last Modified: | 16 Nov 2021 11:16 |
| URI: | https://pred.uni-regensburg.de/id/eprint/40770 |
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