Table 2: Mutations identified in patients with Crigler-Najjar syndrome (CNS).

Patients Reported consanguinityBilirubin (mg/dL) Age/sex (F: female; M: male) Mutation PolymorphismsReference
TotalDirect

Family A
CNS-1Yes31.21.799-month-old/Mc.238_240del/c.238_240delDel(AG)Novel
CNS-2Yes1.53 0.9722-year-old/Mc.238_240del/NDel(AG)Novel
CNS-3Yes2.11.2221-year-old/Fc.238_240del/NDel(AG)Novel

Family B
CNS-4No18 weeks GA/—c.238_240del/ c.238_240delDel(AG)Novel
CNS-5No3.61.7828-year-old/Mc.238_240del/NDel(AG)Novel
CNS-6No1.691.0126-year-old/Fc.238_240del/NDel(AG)Novel
CNS-7No261.511-year-old/Fc.238_240del/c.238_240delDel(AG)Novel

Family C
CNS-8Yes260.5611-year-old/Mc.479T>A/c.479T>AT>A Huang et al., 2006 [2]
CNS-9Yes1.480.9949-year-old/Fc.479T>A/NT>AHuang et al., 2006 [2]
CNS-10Yes2.611.1352-year-old/Mc.479T>A/NT>AHuang et al., 2006 [2]
CNS-11Yes8.41.829-year-old/Mc.479T>A/NT>AHuang et al., 2006 [2]
CNS-12Yes0.80.328-year-old/FN/NT>AHuang et al., 2006 [2]