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BioMed Research International
Volume 2013 (2013), Article ID 342371, 6 pages
http://dx.doi.org/10.1155/2013/342371
Research Article

UGT1A1 Gene Mutation due to Crigler-Najjar Syndrome in Iranian Patients: Identification of a Novel Mutation

1Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
2Genetic Department, Faculty of Science, Shahid Chamran Univerity, Ahvaz, Iran
3Pediatric Department, Ahvaz Jundishapur University of Medical Sciences, Golestan Hospital, Golestan, Ahvaz, Iran
4Noor Genetic Diagnostic Laboratory, Ahvaz, Iran
5Toxicology Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

Received 9 April 2013; Revised 27 June 2013; Accepted 27 June 2013

Academic Editor: Thomas Liehr

Copyright © 2013 Javad Mohammadi Asl et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Crigler-Najjar syndrome (CNS) type I and type II are inherited as autosomal recessive conditions that are caused by mutations in the UGT1A1 gene. We present the analysis of UGT1A1 gene in 12 individuals from three different families. This analysis allowed us to identify one novel mutation, which was not previously described. In this study, three families with clinically diagnosed CNS referred from Khuzestan province, southwest Iran, were screened. After signing the informed consent, peripheral blood samples from the patients and their parents were collected in EDTA-containing tube followed by DNA extraction using a routine phenol-chloroform method. All five coding exons and the flanking intronic regions of the bilirubin-UGT were amplified by polymerase chain reaction (PCR) followed by DNA sequencing by Sanger method. From the first family, a 9-month-old boy was homozygous for a deletion mutation of two adjacent nucleotides including one adenosine (A) and one glutamine (G) between nucleotides 238 and 239 in exon 1 (c.238_240 del AG). In the second family, there were two affected individuals, an 11-year-old girl and a fetus, found to be homozygous for the same mutation. The third family showed a mutation at nucleotide 479 in exon 1 (Val160Glu) that has been reported previously. Molecular analysis can significantly help confirm the diagnosis of CNS, without any need for the liver biopsy, and may help the therapeutic management by ruling out more harmful causes of hyperbilirubinemia.