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

doi:10.1111/ped.12404

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

Pharmaceutical Health Care and Sciences Faculty

Research output: Contribution to journal › Article › peer-review

10 Citations (Scopus)

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.

Original language	English
Pages (from-to)	e62-e64
Journal	Pediatrics International
Volume	56
Issue number	5
DOIs	https://doi.org/10.1111/ped.12404
Publication status	Published - Oct 1 2014

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

Access to Document

10.1111/ped.12404

Cite this

@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 = oct,

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 - 2014/10/1

Y1 - 2014/10/1

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

C2 - 25336012

AN - SCOPUS:84939215262

SN - 1328-8067

VL - 56

SP - e62-e64

JO - Pediatrics International

JF - Pediatrics International

IS - 5

ER -

Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene

Abstract

All Science Journal Classification (ASJC) codes

Access to Document

Other files and links

Fingerprint

Cite this