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Article

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

BMC medical genetics - 11 Jun 2018

Wei Chunli, Yang Lisha, Cheng Jingliang, Imani Saber, Fu Shangyi, Lv Hongbin, Li Yumei, Chen Rui, Leung Elaine Lai-Han, Fu Junjiang

Abstract excerpt

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 sequencing to explore the GPR98 mutations in a USH2C pedigree that included a 32-year-old male patient from a consanguineous...

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Identifiers

PMID: 29890953
DOI: 10.1186/s12881-018-0602-0
PMCID: PMC5996530

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