Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy.
Year: 2017
Type: article
Study design: Observational Study
Abstract: PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR. METHODS: To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed. Segregation analysis of the candidate variant was performed in additional family members by using Sanger sequencing and quantitative real-time PCR (QPCR). RESULTS: , EX8Del]. The two novel heterozygous deletion mutations were not observed in the control subjects and could give rise to a relatively severe FEVR phenotype, which could be explained by the protein function prediction. CONCLUSIONS: , EX8Del] using targeted NGS as a causative mutation for FEVR. These genetic deletion variations exhibit a severe form of FEVR, with tractional retinal detachments compared with other known point mutations. The data further enrich the mutation spectrum of FEVR and enhance our understanding of genotype-phenotype correlations to provide useful information for disease diagnosis, prognosis, and effective genetic counseling.
Source: PubMed
Authors: Xiao-Yan Huang, Hong Zhuang, Ji-Hong Wu, Jian-Kang Li, Fang-Yuan Hu, Yu Zheng, Laurent Christian Asker M Tellier, Sheng-Hai Zhang, Feng-Juan Gao, Jian-Guo Zhang, Ge-Zhi Xu
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funder: Fudan University
OpenAlex ID: W2750165791