Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome

Table 2 Patients with different types of SLC2A2 variants and the levels of plasma HCO₃⁻ and BE

Variant type in both alleles	Patient ID	Allele 1 (paternal)		Allele 2 (maternal)		HCO₃⁻(mmol/L)	BE (mmol/L)
Variant type in both alleles	Patient ID	Nucleotide alteration	Amino acid alteration	Nucleotide alteration	Amino acid alteration	HCO₃⁻(mmol/L)	BE (mmol/L)
Missense	P1	c.609T > A	p.S203R	c.609T > A	p.S203R	16.2	-8.3
	P3	c.1217T > G*	p.L406R	c.1217T > G*	p.L406R	19.8	-6.4
	P6	c.1217T > G	p.L406R	c.1217T > G	p.L406R	16.1	-8.3
	P7	c.566G > A	p.G189D	c.566G > A	p.G189D	19.4	-6.2
Nonsense, frameshift, splicing site or gross deletion	P2	c.1313dup	p.A439SfsX45	c.379_380insTC	p.A127VfsX4	13.1	-11.9
	P4	c.255_256del	p.E85DfsX93	c.496 + 2T > G	/	12.6	-11.4
	P8	E10-11del	/	c.1106_1109del	p.F369X	13.4	-10.8
	P9i	c.553_554del	p.R185GfsX18	c.553_554del	p.R185GfsX18	12.1	-12.9
	P9ii	c.553_554del	p.R185GfsX18	c.553_554del	p.R185GfsX18	14.6	-12.6
	P10	c.1093 C > T	p.R365X	c.371 + 2T > C	/	11.3	-14.9

ISSN: 1750-1172