Contribution of G71R mutation to Gilbert’s syndrome phenotype in a Greek patient:A case report

• 作者: Aleka Stamoulakatou Kostas Konstantopoulos Maria Karakosta Revekka Tzanetea Vassiliki Kalotychou Yannis Rombos
• 来源期刊: 世界胃肠药理与治疗学杂志：英文版（电子版）
• 学科: 医学
• 关键词: Gilbert’s syndrome G71R MUTATION CAUCASIAN
• 年，卷（期）: 2011,（5）
• 页码范围: 42-45
• 页数: 4页
• 分类号: R725.7

摘要

Gilbert’s syndrome is characterized by a benign indirect hyperbilirubinemia.It has often been underestimated and undiagnosed because of its mild symptoms;al-though 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,increas-ing to 10% in the Caucasian population.This molecular defect was described,by Bosma et al,in 1995,and af-fects 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.TheG71R 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.