Kalotychou V, Karakosta M, Tzanetea R, Stamoulakatou A, Konstantopoulos K, Rombos Y. Contribution of G71R mutation to Gilbert’s syndrome phenotype in a Greek patient: A case report. World J Gastrointest Pharmacol Ther 2011; 2(5): 42-45 [PMID: 22046580 DOI: 10.4292/wjgpt.v2.i5.42]
Corresponding Author of This Article
Vassiliki Kalotychou, PhD, 1st Department of Internal Medicine, University of Athens, “Laikon” Hospital, 17 Agiou Thoma str, Athens, 11527, Greece. vkalotyc@med.uoa.gr
Article-Type of This Article
Case Report
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Vassiliki Kalotychou, Maria Karakosta, Revekka Tzanetea, Kostas Konstantopoulos, Yannis Rombos, 1st Department of Internal Medicine, University of Athens, Athens, 11527, Greece
Author contributions: Kalotychou V performed research, reviewed the literature and wrote the final draft of the paper; Karakosta M performed research; Tzanetea R participated in writing the manuscript; Stamoulakatou A was the referring physician of the clinical case; Konstantopoulos K critically reviewed the manuscript; Rombos Y critically reviewed the manuscript and approved the final version.
Supported by Research Committee Special Account (ELKE)
Correspondence to: Vassiliki Kalotychou, PhD, 1st Department of Internal Medicine, University of Athens, “Laikon” Hospital, 17 Agiou Thoma str, Athens, 11527, Greece. vkalotyc@med.uoa.gr
Telephone: +30-210-7462511 Fax: +30-210-7788830
Received: May 17, 2011 Revised: September 20, 2011 Accepted: September 28, 2011 Published online: October 6, 2011
Abstract
Gilbert’s syndrome is characterized by a benign indirect hyperbilirubinemia. It has often been underestimated and undiagnosed because of its mild symptoms; although it is not as rare as was once believed when its frequency was estimated using data originating from biochemical tests. Based on molecular techniques, the occurrence of Gilbert’s syndrome has changed, increasing to 10% in the Caucasian population. This molecular defect was described, by Bosma et al, in 1995, and affects the promoter region of the UGT 1A1 gene. In this case report, our aim is to present a new combination of two molecular defects in a Greek patient with Gilbert’s syndrome. A 13-year-old Greek girl was examined for Gilbert’s syndrome using molecular techniques, and an uncommon genotype was revealed comprising the rare mutation G71R in trans with A(TA)7TAA motif. The G71R mutation according to the literature, as well as our epidemiological data, is rare in Caucasians, while it is common in Asian populations. This is the first case study in the Greek population to report a new genotype for Gilbert’s syndrome manifestation in the Caucasian population.
