Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

Hye Ji ChoiJoon Suk LeeSeyoung YuDo Hyeon ChaHeon Yung GeeJae Young ChoiJong Dae LeeJinsei Jung

Published in: BMC medical genetics (2017)

This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
hearing loss
prognostic factors
peritoneal dialysis
autism spectrum disorder
patient reported outcomes