Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

Table 2 The mutations feature of patients with wolfram syndrome

Case no.	Gene	Nucleotide changes	Amino acid changes	Type of mutation	Zygosity	References	PolyPhen2*	SIFT**
1	CISD2	c.272_273del	p.Leu91fs	Frameshift	Homozygote	This study	–	Damaging
2	WFS1	c.1618 T > G	p.Trp540Gly	Missense	Compound heterozygote	This study	Possibly Damaging	Damaging
2	WFS1	c.2020G > A	p.Gly674Arg	Missense	Compound heterozygote	[26, 27]	Probably Damaging	Damaging
3	WFS1	c.1048 T > A	p.Phe350Ile	Missense	Compound heterozygote	This study	Probably Damaging	Damaging
3	WFS1	c.2020G > A	p.Gly674Arg	Missense	Compound heterozygote	[26, 27]	Probably Damaging	Damaging
4	WFS1	c.937C > T	p.His313Tyr	Missense	Heterozygote	[28,29,30]	Probably Damaging	Damaging

*PolyPhen2 Polymorphism Phenotyping 2, ** SIFT Sorting Intolerant from Tolerant. SIFT were used for the prediction of pathogenicity of all detected mutations and PolyPhen2 were used for the prediction of pathogenicity of all missense mutations

ISSN: 1750-1172