UGT1A1-related disorders in Bahrain: A genetic and clinical overview of Crigler-Najjar and Gilbert syndromes

Table 3 Genetic variants of patients with UGT1A1-related disorders, n (%)

Polymorphism	Zygosity	UGT1A1 variant	Location	Zygosity	Classification	Total, n = 35 (100)
CNS-I						1 (2.9)
(TA)7/7	Homozygous	c.1070A>G p.(Gln357Arg)[2,7,22]	Exon 3	Homozygous	Pathogenic	1 (2.9)
CNS-II						7 (20.0)
(TA)7/7	Homozygous	c.907G>A p.(Val303Met)[24]	Exon 2	Homozygous	VUS	2 (5.7)
(TA)7/7	Heterozygous	c.161G>A p.(Gly54Val)	Exon 1	Heterozygous	VUS	1 (2.9)
(TA)7/7	Homozygous	c.674T>G p.(Val225Gly)[23]	Exon 1	Homozygous	LP	1 (2.9)
		c.907G>A p.(Val303Met)[24]		Homozygous	VUS	1 (2.9)
(TA)7/7	Homozygous	c.674T>G p.(Val225Gly)[23]	Exon 1	Homozygous	LP	1 (2.9)
		c.907G>A p.(Val303Met)[24]		Heterozygous	VUS	1 (2.9)
(TA)7/7	Homozygous	c.674T>G p.(Val225Gly)[23]	Exon 1	Heterozygous	LP	1 (2.9)
		c.907G>A p.(Val303Met)[24]		Heterozygous	VUS	1 (2.9)
(TA)7/7	Homozygous	c.1070A>G p.(Gln357Arg)[2,7,22]	Exon 3	Heterozygous	Pathogenic	1 (2.9)
GS						27 (77.1)
(TA)7/7	Homozygous					24 (68.6)
(TA)7/8	Compound heterozygous					2 (5.7)
(TA)7/7	Homozygous	c.-3275T>G[25]		Homozygous	VUS	1 (2.9)

CNS: Crigler-Najjar syndrome; GS: Gilbert syndrome; LP: Likely pathogenic; VUS: Variant of unknown significance.