UGT1A1 Gene Mutation due to Crigler-Najjar Syndrome in Iranian Patients: Identification of a Novel Mutation

Table 2

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

Patients	Reported consanguinity	Bilirubin (mg/dL)		Age/sex (F: female; M: male)	Mutation	Polymorphisms	Reference
		Total	Direct
Family A
CNS-1	Yes	31.2	1.79	9-month-old/M	c.238_240del/c.238_240del	Del(AG)	Novel
CNS-2	Yes	1.53	0.97	22-year-old/M	c.238_240del/N	Del(AG)	Novel
CNS-3	Yes	2.1	1.22	21-year-old/F	c.238_240del/N	Del(AG)	Novel
Family B
CNS-4	No	—	—	18 weeks GA/—	c.238_240del/ c.238_240del	Del(AG)	Novel
CNS-5	No	3.6	1.78	28-year-old/M	c.238_240del/N	Del(AG)	Novel
CNS-6	No	1.69	1.01	26-year-old/F	c.238_240del/N	Del(AG)	Novel
CNS-7	No	26	1.5	11-year-old/F	c.238_240del/c.238_240del	Del(AG)	Novel
Family C
CNS-8	Yes	26	0.56	11-year-old/M	c.479T>A/c.479T>A	T>A	Huang et al., 2006 [2]
CNS-9	Yes	1.48	0.99	49-year-old/F	c.479T>A/N	T>A	Huang et al., 2006 [2]
CNS-10	Yes	2.61	1.13	52-year-old/M	c.479T>A/N	T>A	Huang et al., 2006 [2]
CNS-11	Yes	8.4	1.8	29-year-old/M	c.479T>A/N	T>A	Huang et al., 2006 [2]
CNS-12	Yes	0.8	0.3	28-year-old/F	N/N	T>A	Huang et al., 2006 [2]