Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus

作     者：Feng-wei SONG Bin-bin CHEN Zhao-hui SUN Li-ping WU Su-juan ZHAO Qi MIAO Xia-jing TANG 

作者机构：Eye Centerthe Second Affiliated HospitalSchool of MedicineZhejiang University Department of Ophthalmologythe First Affiliated Hospital of Huzhou Teachers College Department of Otolaryngology-Head and Neck Surgerythe First Affiliated HospitalWenzhou Medical College 

出 版 物：《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 (浙江大学学报（英文版）B辑（生物医学与生物技术）)

年 卷 期：2013年第14卷第6期

页      面：479-486页

核心收录：

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

基　　金：Project supported by the Zhejiang Provincial Science Fund of Health Bureau of China (No. 2012KYA102) the Fundamental Research Funds for the Central Universities (No. 2011FZA7014) the Zhejiang Key Innovation Team Project of China (No. 2009R50039) the Zhejiang Key Laboratory Fund of China (No. 2011E10006) 

主　　题：Mutation Idiopathic congenital nystagmus FERM domain-containing protein 7(FRMD7) 

摘      要：Objective:To screen mutations in FERM domain-containing protein 7(FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus(XLICN).Methods:Common ophthalmic data and peripheral blood of two Chinese XLICN families(families A and B) were collected after informed *** DNA was prepared from the peripheral blood of members of the two families and from 100 normal *** in the FRMD7 gene were determined by directly sequencing polymerase chain reaction(PCR) ***:We identified a novel mutation c.980_983delATTA compound with c.986CA mutation in the 11th exon of FRMD7 in family B,and a previously reported splicing mutation c.782GC(p.R261G) in family *** mutations were detected in patients and female carriers,while they were absent in other relatives or in the 100 normal ***:Our results expand the spectrum of FRMD7 mutations in association with XLICN,and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.