Contribution of G71R mutation to Gilbert’s syndrome phenotype in a Greek patient: A case report
| Autor: | Aleka Stamoulakatou, Revekka Tzanetea, Yannis Rombos, Vassiliki Kalotychou, Kostas Konstantopoulos, Maria Karakosta |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
Pediatrics
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities business.industry Indirect Hyperbilirubinemia nutritional and metabolic diseases Case Report medicine.disease Dermatology Gilbert's syndrome Phenotype Mild symptoms Epidemiology Genotype Medicine Greek population business Caucasian population |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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