Haematologica, Vol 92, Issue 1, 133-134 doi:10.3324/haematol.10585
Copyright © 2007 by Ferrata Storti Foundation
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Red Cell Disorders

Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia

Maria D’Apolito*, Agnese Marrone°, Veronica Servedio*, Pietro Vajro#, Luigia De Falco°, Achille Iolascon°,

* Dipartimento di Scienze Mediche e del Lavoro, Università degli Studi di Foggia, Italy;
° Dept of Biochemistry and Biomedical Technologies University Federico II, CEINGE, Advanced Biotechnologies, Napoli, Italy;
# Dipartimento di Pediatria Università degli Studi di Napoli Federico II, Napoli

Correspondence: Achille Iolascon, Chair of Medical Genetics, Dept. of Biochemistry and Biomedical Technologies, University Federico II, Naples, CEINGE, Advanced Biotechnologies 80145 Naples. E-mail: iolascon{at}dbbm.unina.it

The aim of this study was to identify new pathogenic variations of the UGT1A1 gene in 11 patients diagnosed with neonatal unconjugated hyperbilirubinemia. We describe two cases in which clinically unapparent heterozygotic mutations in the UGT1A1 gene may become evident in combination with certain environmental conditions or additional genetic defects.

Key words: Bilirubin, jaundice, Crigler-Najjar syndrome, Gilbert syndrome, bilirubin UDP-glucuronosyltransferase; UGT1A1.




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F. M Petit, M. Hebert, V. Gajdos, A. Mollet-Boudjemline, and P. Labrune
Comments on Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al.
Haematologica, July 1, 2007; 92(7): e80 - e80.
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