Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature

Table 1 Fanconi-Bickel syndrome cases in China with different glucose transporter protein 2 mutations

Patient	Age (mo)	Gender	Patient		Mutation in mother	Mutation in father	Mutation type
			Mutation	Amino acid change
1[27]	12	Female	c.1068+5G>C	Not stated	C.1068 + 5G>C	Unknown	Splice-site
2[27]	9	Female	c.1194T>A	p.Tyr398X	Unknown	Unknown	Nonsense
3[27]	17	Female	c.380C>A	p.Ala127Asp	None	c.380C>A	Missense
			c.970dupT	p.324TyrfsX392	None	None	Repeat (de novo)
4[28]	Not stated	Not stated	c.380insTC	Not stated	None	c.380insTC	Unknown
			c.1313insT	Not stated	c.1313insT	None
5[29]	12	Female	c.682C>T	p.Arg228X	c.682C > T	None	Nonsense
			c.1185 >A	p.Trp395X	None	c.1185G>A
6[29]	11	Male	c.196G>A	p.Glu66X	None	Unknown	Nonsense
			c.1117delA	p.Met373X	c.1117delA
7[30]	1	Female	c.609T>A	p.Ser203Arg	c.609T > A	c.609T>A	Missense
8	6	Female	c.416delC	p.A139Vfs*3	c.416delC	c.416delC	Frameshift
9[31]	18	Female	c.1134_1137del	p.V378fs	c.1134_1137del	-	Frameshift
			c.2T>C	p.M1T	-	c.2T>C	Missense