Skip to main content

Table 3 Sanger sequencing reveals WFS1 gene mutations and clinical manifestations in the patients’ maternal grandparents

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

Test gene Detection location Detection method Nucleotide changes Subject Clinical manifestation Results
WFS1 chr4–6,303,836 Sanger sequencing c.2314C > T maternal grandfather negative No variation
maternal grandmother negative Heterozygous mutations
WFS1 chr4–6,303,716 Sanger sequencing c.2194C > T maternal grandfather negative No variation
maternal grandmother negative Heterozygous mutations