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

BMC Endocrine Disorders

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

ISSN: 1472-6823