Neonatal Dubin-Johnson syndrome

Novel compound heterozygous mutation in the ABCC2 gene

Hitoshi Okada, Takashi Kusaka, Noriko Fuke, Jun Kunikata, Sonoko Kondo, Takashi Iwase, Wang Nan, Takeshi Hirota, Ichiro Ieiri, Susumu Itoh

研究成果: ジャーナルへの寄稿記事

5 引用 (Scopus)

抄録

Dubin-Johnson syndrome (DJS) is an autosomal recessive inherited disorder characterized by conjugated hyperbilirubinemia. Neonatal-onset DJS is rare. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2). We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18. Serum diglucuronosyl bilirubin/monoglucuronosyl bilirubin ratio was high. ABCC2 may excrete diglucuronosyl bilirubin preferentially over monoglucuronosyl bilirubin.

元の言語英語
ページ(範囲)e62-e64
ジャーナルPediatrics International
56
発行部数5
DOI
出版物ステータス出版済み - 1 1 2014

Fingerprint

Chronic Idiopathic Jaundice
Bilirubin
Mutation
Missense Mutation
Genes
Exons
Hyperbilirubinemia
Adenosine Triphosphate
Serum

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

これを引用

Okada, H., Kusaka, T., Fuke, N., Kunikata, J., Kondo, S., Iwase, T., ... Itoh, S. (2014). Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene. Pediatrics International, 56(5), e62-e64. https://doi.org/10.1111/ped.12404

Neonatal Dubin-Johnson syndrome : Novel compound heterozygous mutation in the ABCC2 gene. / Okada, Hitoshi; Kusaka, Takashi; Fuke, Noriko; Kunikata, Jun; Kondo, Sonoko; Iwase, Takashi; Nan, Wang; Hirota, Takeshi; Ieiri, Ichiro; Itoh, Susumu.

:: Pediatrics International, 巻 56, 番号 5, 01.01.2014, p. e62-e64.

研究成果: ジャーナルへの寄稿記事

Okada, H, Kusaka, T, Fuke, N, Kunikata, J, Kondo, S, Iwase, T, Nan, W, Hirota, T, Ieiri, I & Itoh, S 2014, 'Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene', Pediatrics International, 巻. 56, 番号 5, pp. e62-e64. https://doi.org/10.1111/ped.12404
Okada, Hitoshi ; Kusaka, Takashi ; Fuke, Noriko ; Kunikata, Jun ; Kondo, Sonoko ; Iwase, Takashi ; Nan, Wang ; Hirota, Takeshi ; Ieiri, Ichiro ; Itoh, Susumu. / Neonatal Dubin-Johnson syndrome : Novel compound heterozygous mutation in the ABCC2 gene. :: Pediatrics International. 2014 ; 巻 56, 番号 5. pp. e62-e64.
@article{e9755136048b41bf8a3c2494e5343bfe,
title = "Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene",
abstract = "Dubin-Johnson syndrome (DJS) is an autosomal recessive inherited disorder characterized by conjugated hyperbilirubinemia. Neonatal-onset DJS is rare. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2). We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18. Serum diglucuronosyl bilirubin/monoglucuronosyl bilirubin ratio was high. ABCC2 may excrete diglucuronosyl bilirubin preferentially over monoglucuronosyl bilirubin.",
author = "Hitoshi Okada and Takashi Kusaka and Noriko Fuke and Jun Kunikata and Sonoko Kondo and Takashi Iwase and Wang Nan and Takeshi Hirota and Ichiro Ieiri and Susumu Itoh",
year = "2014",
month = "1",
day = "1",
doi = "10.1111/ped.12404",
language = "English",
volume = "56",
pages = "e62--e64",
journal = "Pediatrics International",
issn = "1328-8067",
publisher = "Wiley-Blackwell",
number = "5",

}

TY - JOUR

T1 - Neonatal Dubin-Johnson syndrome

T2 - Novel compound heterozygous mutation in the ABCC2 gene

AU - Okada, Hitoshi

AU - Kusaka, Takashi

AU - Fuke, Noriko

AU - Kunikata, Jun

AU - Kondo, Sonoko

AU - Iwase, Takashi

AU - Nan, Wang

AU - Hirota, Takeshi

AU - Ieiri, Ichiro

AU - Itoh, Susumu

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Dubin-Johnson syndrome (DJS) is an autosomal recessive inherited disorder characterized by conjugated hyperbilirubinemia. Neonatal-onset DJS is rare. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2). We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18. Serum diglucuronosyl bilirubin/monoglucuronosyl bilirubin ratio was high. ABCC2 may excrete diglucuronosyl bilirubin preferentially over monoglucuronosyl bilirubin.

AB - Dubin-Johnson syndrome (DJS) is an autosomal recessive inherited disorder characterized by conjugated hyperbilirubinemia. Neonatal-onset DJS is rare. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2). We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18. Serum diglucuronosyl bilirubin/monoglucuronosyl bilirubin ratio was high. ABCC2 may excrete diglucuronosyl bilirubin preferentially over monoglucuronosyl bilirubin.

UR - http://www.scopus.com/inward/record.url?scp=84939215262&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84939215262&partnerID=8YFLogxK

U2 - 10.1111/ped.12404

DO - 10.1111/ped.12404

M3 - Article

VL - 56

SP - e62-e64

JO - Pediatrics International

JF - Pediatrics International

SN - 1328-8067

IS - 5

ER -