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Table 4 Clinical mutated nucleotide site and patterns of patients in WFS1 and CISD2 genes of Wolfram syndrome

From: Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

GENE Population Nucleotide changes Exon Zygosity References
WFS1 Polish c.1232 V > delGCTG Exon8 Homozygous  
WFS1 Polish c. 1943G > A
c. 2336 T > G
Exon8 compound heterozygote [15]
WFS1 Polish c. 1330C > G Exon8 Homozygous  
WFS1 Iranian c.376G > A Exon8 homozygous [16]
WFS1 Iranian c.1672C > T Exon10 homozygous [17]
WFS1 Iranian c.330C  >  A Exon4 Homozygote [22]
WFS1 Turkish c.1832_11847del16
c.1672C > T
Exon 8 Compound heterozygote  
Turkish c.1867delA
c.1943G > A
Exon 8 Compound heterozygote [18]
Turkish c.376G > A Exon 4 Homozygote  
WFS1 Chinese c.1760G > A Exon 8 Homozygote [19]
WFS1 Japanese p. N325_I328del   heterozygote Homozygote [21]
CISD2 Chinese c.272_273del Exon 2 Homozygote [20]
CISD2 Moroccan c.215A > G Exon 2 Homozygote [14]
CISD2 Italian c.103 + 1G > A Intron 1 Homozygote [23]
CISD2 Caucasian Intragenic deletion Exon 2 Homozygote [24]
CISD2 Jordanian c.109G > C Exon 2 Homozygote [11]
WFS1 Chinese c.2314C > T
c.2194C > T
c.2171C > T
Exon8 Compound heterozygote This study