PMC7318866_01
The whole exome sequencing and Sanger sequencing verification showed the patient (propositus) and her daughter both had the heterozygous variant of PIEZO1; c.6017T>A; p.V2006D.
fendo-11-00356-g0001.jpg
PMC7318866_01_fendo-11-00356-g0001.jpg
F1
A, p.V2006D) by whole exome sequencing of the blood with confirmation of sanger sequencing (Figure 1), which is associated with dehydration hereditary stomatocytosis (DHS). After this diagnosis, nateglinide was changed to sitagliptin to reduce the burden of the pancrea islet function.