Rescue of mis-splicing of a common SLC26A4 mutant associated with sensorineural hearing loss by antisense oligonucleotides

• Main Authors: Pengchao Feng (Author), Zhijiao Xu (Author), Jialin Chen (Author), Meizhen Liu (Author), Yu Zhao (Author), Daqi Wang (Author), Lei Han (Author), Li Wang (Author), Bo Wan (Author), Xingshun Xu (Author), Dali Li (Author), Yilai Shu (Author), Yimin Hua (Author)
• Format: Book
• Published: Elsevier, 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

A wide spectrum of SLC26A4 mutations causes Pendred syndrome and enlarged vestibular aqueduct, both associated with sensorineural hearing loss (SNHL). A splice-site mutation, c.919-2A>G (A-2G), which is common in Asian populations, impairs the 3' splice site of intron 7, resulting in exon 8...