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 |