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The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promoter causes Gilbert's syndrome.
Ann Clin Lab Sci. 2015 Spring; 45(2):202-5.AC

Abstract

Gilbert's syndrome is a benign form of unconjugated hyperbilirubinemia caused by reduction of hepatic activity of bilirubin glucuronosyltranferase. The most common genotype of Gilbert's syndrome is the homozygous polymorphism [A(TA)7TAA] in the promoter of the gene for UDP-glucuronosyltransferase 1A1 (UGT1A1), which results in a decrease in UGT1A1 activity. However, individuals with normal bilirubin levels and no clinical symptoms of Gilbert's syndrome may also present this in a homozygous condition. By direct sequencing, we performed UGT1A1 gene analysis on a 31-year-old man with Gilbert's syndrome and homozygous for [A(TA)7TAA], and on his parents. Two UGT1A1 mutations were identified. Both mutations were inherited from each of the two parents, both with normal levels of bilirubin. One of the two mutations, c.993 (p.Q331H), is a missense mutation and is predicted to have a deleterious effect on protein functionality. Given the importance for clinicians to consider the Gilbert genotype in cases with unexplained indirect hyperbilirubinemia, the case we report may add a new variant to the spectrum of mutations of Gilbert's syndrome.

Authors+Show Affiliations

Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy IRCCS Centro Neurolesi "Bonino-Pulejo", Messina, Italy.Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy IRCCS Centro Neurolesi "Bonino-Pulejo", Messina, Italy.Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy.Department of Experimental Sciences Medical-Surgical, Specialist and Odontostomatologic, University of Messina, Messina, Italy.Department of Biomedical Sciences and Morphological and Functional Images, Division of Medical Biotechnologies and Preventive Medicine, University of Messina, Messina, Italy IRCCS Centro Neurolesi "Bonino-Pulejo", Messina, Italy antonella.sidoti@unime.it.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

25887876

Citation

D'Angelo, Rosalia, et al. "The Combination of New Missense Mutation With [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter Causes Gilbert's Syndrome." Annals of Clinical and Laboratory Science, vol. 45, no. 2, 2015, pp. 202-5.
D'Angelo R, Rinaldi C, Donato L, et al. The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promoter causes Gilbert's syndrome. Ann Clin Lab Sci. 2015;45(2):202-5.
D'Angelo, R., Rinaldi, C., Donato, L., Nicocia, G., & Sidoti, A. (2015). The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promoter causes Gilbert's syndrome. Annals of Clinical and Laboratory Science, 45(2), 202-5.
D'Angelo R, et al. The Combination of New Missense Mutation With [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter Causes Gilbert's Syndrome. Ann Clin Lab Sci. 2015;45(2):202-5. PubMed PMID: 25887876.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promoter causes Gilbert's syndrome. AU - D'Angelo,Rosalia, AU - Rinaldi,Carmela, AU - Donato,Luigi, AU - Nicocia,Giacomo, AU - Sidoti,Antonina, PY - 2015/4/19/entrez PY - 2015/4/19/pubmed PY - 2016/1/14/medline KW - Gilbert’s syndrome KW - Hyperbilirubinemia KW - Mutation analysis KW - UDP-glucuronosyltransferase KW - UGT1A1 SP - 202 EP - 5 JF - Annals of clinical and laboratory science JO - Ann. Clin. Lab. Sci. VL - 45 IS - 2 N2 - Gilbert's syndrome is a benign form of unconjugated hyperbilirubinemia caused by reduction of hepatic activity of bilirubin glucuronosyltranferase. The most common genotype of Gilbert's syndrome is the homozygous polymorphism [A(TA)7TAA] in the promoter of the gene for UDP-glucuronosyltransferase 1A1 (UGT1A1), which results in a decrease in UGT1A1 activity. However, individuals with normal bilirubin levels and no clinical symptoms of Gilbert's syndrome may also present this in a homozygous condition. By direct sequencing, we performed UGT1A1 gene analysis on a 31-year-old man with Gilbert's syndrome and homozygous for [A(TA)7TAA], and on his parents. Two UGT1A1 mutations were identified. Both mutations were inherited from each of the two parents, both with normal levels of bilirubin. One of the two mutations, c.993 (p.Q331H), is a missense mutation and is predicted to have a deleterious effect on protein functionality. Given the importance for clinicians to consider the Gilbert genotype in cases with unexplained indirect hyperbilirubinemia, the case we report may add a new variant to the spectrum of mutations of Gilbert's syndrome. SN - 1550-8080 UR - https://www.unboundmedicine.com/medline/citation/25887876/The_combination_of_new_missense_mutation_with_[A_TA_7TAA]_dinucleotide_repeat_in_UGT1A1_gene_promoter_causes_Gilbert's_syndrome_ L2 - http://www.annclinlabsci.org/cgi/pmidlookup?view=long&pmid=25887876 DB - PRIME DP - Unbound Medicine ER -