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Neonatal D ubin– J ohnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene
Author(s) -
Okada Hitoshi,
Kusaka Takashi,
Fuke Noriko,
Kunikata Jun,
Kondo Sonoko,
Iwase Takashi,
Nan Wang,
Hirota Takeshi,
Ieiri Ichiro,
Itoh Susumu
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12404
Subject(s) - missense mutation , exon , medicine , mutation , compound heterozygosity , bilirubin , microbiology and biotechnology , multidrug resistance associated protein 2 , genetics , gene mutation , gene , biology , atp binding cassette transporter , transporter
D ubin– J ohnson 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.