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BMC Pediatrics
Published in: BMC Pediatrics 1/2018

Open Access 01-12-2018 | Case report

Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome

Authors: Linda Gailite, Dmitrijs Rots, Ieva Pukite, Gunta Cernevska, Madara Kreile

Published in: BMC Pediatrics | Issue 1/2018

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Abstract

Background

Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert’s syndrome and Crigler-Najjar syndrome types I and II. These syndromes are differentiated on the basis of UGT1A1 residual enzymatic activity and its affected bilirubin levels and responsiveness to phenobarbital treatment.

Case presentation

In this report, we present a boy with Crigler-Najjar syndrome type II with high unconjugated bilirubin levels that decreased after phenobarbital treatment but increased in adolescence. Four different UGT1A1 gene variants have been identified for this patient, of which one is novel (g.11895_11898del) most likely confirming diagnose molecularly.

Conclusions

The presented case highlights the challenges encountered with the interpretation of molecular data upon identification of multiple variants in one gene that are causing different degree reducing effect on enzyme activity leading to several clinical conditions.
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Metadata
Title
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome
Authors
Linda Gailite
Dmitrijs Rots
Ieva Pukite
Gunta Cernevska
Madara Kreile
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2018
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-018-1285-6

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