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

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. SIMILAR CONTENT BEING VIEWED BY OTHERS IDENTIFICATION OF A NOVEL _LDLR_ P.GLU179MET

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RANGE Article Open access 03 August 2020 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Molecular Genetics of Cardiovascular Disorders, Vascular Medicine, Division of

Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa 920-8641, Japan Tel. +81-76-265-2251; Fax +81-76-234-4251 e-mail:

[email protected], , , , , , JP Z. Guo, A. Inazu, W. Yu, A. Nohara, T. Higashikata & H. Mabuchi * Department of Laboratory Science, School of Health Sciences, Kanazawa

University, Kanazawa, Japan, , , , , , JP T. Suzumura & M. Okamoto * Sano Clinic, Yonezawa, Japan, , , , , , JP R. Sano * Wakasugi Clinic, Yamagata, Japan, , , , , , JP K. Wakasugi *

Toyama Municipal Hospital, Toyama, Japan, , , , , , JP T. Hayakawa & K. Yoshida * Second Department of Internal Medicine, Kochi Medical School, Kochi, Japan, , , , , , JP T. Suehiro *

Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany, , , , , , DE G. Schmitz Authors * Z. Guo View author publications You can also search

for this author inPubMed Google Scholar * A. Inazu View author publications You can also search for this author inPubMed Google Scholar * W. Yu View author publications You can also search

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INFORMATION Received: January 24, 2002 / Accepted: March 11, 2002 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Guo, Z., Inazu, A., Yu, W. _et al._

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. _J Hum

Genet_ 47, 325–329 (2002). https://doi.org/10.1007/s100380200044 Download citation * Issue Date: June 2002 * DOI: https://doi.org/10.1007/s100380200044 SHARE THIS ARTICLE Anyone you share

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Nature SharedIt content-sharing initiative * Key words Tangier disease * ABCA1 * Large deletion * Double deletions * Missense mutation * Walker A