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ABSTRACT Crigler-Najjar syndrome (CN) type II is caused by a reduction in hepatic bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase activity. Recently, there has been progress

in mutation analysis of patients with CN type II. Here, we analyzed both the coding and the promoter regions of the gene in seven Japanese patients with CN type II from five unrelated

families. The mutations found in this study were classified into three types. The first type was composed of double homozygous missense mutations (Gly71Arg and Tyr486Asp) in exons 1 and 5.

These mutations, which were detected in five patients from three unrelated families, were the commonest. The second type, which was detected in one patient, consisted of a single homozygous

missense mutation (Arg209Trp) in exon 1. The third type, which was detected in one patient and was a new type of mutation combination, was composed of a homozygous insertion mutation of the

TATAA element and a heterozygous missense mutation (Pro229Gln) in exon 1. Although the first and the second type of mutations are recessive, the third type appears to be dominant with

incomplete penetrance, since the allele frequency of the insertion mutation of the TATAA element is very high (40%). SIMILAR CONTENT BEING VIEWED BY OTHERS CONCURRENCE OF NOVEL MUTATIONS

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AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Biology, Shiga University of Medical Science, Seta Tsukinowa, Otsu, Shiga 520-21, Japan Tel.: +81-775-48-2121; Fax:

+81-775-48-2415 e-mail: [email protected], Japan H. Sato * Second Department of Internal Medicine, Shiga University of Medical Science, Shiga, Japan, Japan Kazuo Yamamoto, Miya

Fukano, Yoshihide Fujiyama & Tadao Bamba * Department of Obstetrics and Gynecology, Meiji College of Oriental Medicine, Kyoto, Japan, Japan Yoko Soeda & Yuzuru Satoh * Second

Department of Internal Medicine, Kinki University School of Medicine, Osaka, Japan, Japan Toshinori Kamisako * Internal Medicine, Saiseikai-Yokohama-City-Nanbu Hospital, Yokohama, Kanagawa,

Japan, Japan Hiroo Hosaka * Third Department of Internal Medicine, Mie University School of Medicine, Tsu, Japan, Japan Yukihiko Adachi Authors * Kazuo Yamamoto View author publications You

can also search for this author inPubMed Google Scholar * Yoko Soeda View author publications You can also search for this author inPubMed Google Scholar * Toshinori Kamisako View author

publications You can also search for this author inPubMed Google Scholar * Hiroo Hosaka View author publications You can also search for this author inPubMed Google Scholar * Miya Fukano

View author publications You can also search for this author inPubMed Google Scholar * H. Sato View author publications You can also search for this author inPubMed Google Scholar *

Yoshihide Fujiyama View author publications You can also search for this author inPubMed Google Scholar * Yukihiko Adachi View author publications You can also search for this author

inPubMed Google Scholar * Yuzuru Satoh View author publications You can also search for this author inPubMed Google Scholar * Tadao Bamba View author publications You can also search for

this author inPubMed Google Scholar ADDITIONAL INFORMATION Received: July 4, 1997 / Accepted: August 25, 1997 RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS

ARTICLE Yamamoto, K., Soeda, Y., Kamisako, T. _et al._ Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar

syndrome type II. _J Hum Genet_ 43, 111–114 (1998). https://doi.org/10.1007/s100380050050 Download citation * Published: 01 June 1998 * Issue Date: June 1998 * DOI:

https://doi.org/10.1007/s100380050050 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not

currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative * Key words Crigler-Najjar syndrome type II * Mutation *

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