Table 1.
Clinical data and familial investigation of Crigler–Najjar syndrome type II cases in this study.
Table 2.
Variants and their allele frequencies in Crigler–Najjar syndrome type II cases and healthy controls.
Table 3.
UGT1A1 genotypes of Crigler–Najjar syndrome type II cases.
Table 4.
UG1A1 genotypes of 80 healthy controls.
Table 5.
UGT1A1 genotypes of 27 East Asian Crigler–Najjar syndrome type II cases, as reported in NCBI PubMed, EMBASE (using the search-term “Crigler–Najjar” between January 1992, when UGT1A1 was firstly identified, and November 2014), HGMD (CM062020, CM062020, CM941960, CD941964, CM931125, CM961403, CM972924, CM983519, CM002648, CM002649, CM002415, CD002537, CD014669, CM022853, CM051658, CM051659, CM051661, CM051662, CM051665, CM051666, CS051705, CS051706, CM066253, CM062021, CM062019, CD062241, CM067485, CM067484, CM100072, CM100073, CD100074, CM098937), and OMIM databases (191740).
Fig 1.
Different spectra of UGT1A1 variations for CNS-II according to different bilirubin levels.
A. Previously reported spectrum of UGT1A1 variations for CNS-II. Bilirubin levels exceed 200 μmol/L in 13 of the 27 cases (0.481); B. Novel spectrum of UGT1A1 variations for CNS-II in the present study. Bilirubin levels are under 200 μmol/L in 9 of the 11 cases (0.818).