Table 3.

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

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