A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing

• Main Authors: Chunli Wei (Author), Lisha Yang (Author), Jingliang Cheng (Author), Saber Imani (Author), Shangyi Fu (Author), Hongbin Lv (Author), Yumei Li (Author), Rui Chen (Author), Elaine Lai-Han Leung (Author), Junjiang Fu (Author)
• Format: Book
• Published: BMC, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown. Methods We performed targeted next-generation sequencing analysis and Sanger seq...