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

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

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...

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Bibliographic Details
Main Authors: Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung, Junjiang Fu
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Medical Genetics
Subjects:
Usher syndrome type IIC
GPR98
Nonsense mutation
Molecular diagnosis
Next generation sequencing
Consanguineous marriage
Online Access:http://link.springer.com/article/10.1186/s12881-018-0602-0

Internet

http://link.springer.com/article/10.1186/s12881-018-0602-0

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