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

• Main Authors: Hye Ji Choi (Author), Joon Suk Lee (Author), Seyoung Yu (Author), Do Hyeon Cha (Author), Heon Yung Gee (Author), Jae Young Choi (Author), Jong Dae Lee (Author), Jinsei Jung (Author)
• Format: Book
• Published: BMC, 2017-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. Case presentation Family members underwent audiological and imaging evaluations, inc...