Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.
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.
D'Apolito
Maria
M
Marrone
Agnese
A
Servedio
Veronica
V
Vajro
Pietro
P
De Falco
Luigia
L
Iolascon
Achille
A
D003414:Crigler-Najjar Syndrome / Q000235:genetics; D004777:Environment; D005786:Gene Expression Regulation; D005878:Gilbert Disease / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006932:Hyperbilirubinemia / Q000235:genetics*; D007231:Infant, Newborn; D007565:Jaundice / Q000235:genetics; D009154:Mutation; D000099148:UGT1A1 Enzyme
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme; C019787:bilirubin glucuronoside glucuronosyltransferase