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CLC number: R394.3

On-line Access: 2013-06-04

Received: 2012-09-19

Revision Accepted: 2013-03-31

Crosschecked: 2013-05-17

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Journal of Zhejiang University SCIENCE B 2013 Vol.14 No.6 P.479-486

http://doi.org/10.1631/jzus.B1200259


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


Author(s):  Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang

Affiliation(s):  Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China; more

Corresponding email(s):   sunzhaohui2008@gmail.com

Key Words:  Mutation, Idiopathic congenital nystagmus, FERM domain-containing protein 7 (FRMD7)


Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang. 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[J]. Journal of Zhejiang University Science B, 2013, 14(6): 479-486.

@article{title="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",
author="Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang",
journal="Journal of Zhejiang University Science B",
volume="14",
number="6",
pages="479-486",
year="2013",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1200259"
}

%0 Journal Article
%T 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
%A Feng-wei Song
%A Bin-bin Chen
%A Zhao-hui Sun
%A Li-ping Wu
%A Su-juan Zhao
%A Qi Miao
%A Xia-jing Tang
%J Journal of Zhejiang University SCIENCE B
%V 14
%N 6
%P 479-486
%@ 1673-1581
%D 2013
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1200259

TY - JOUR
T1 - 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
A1 - Feng-wei Song
A1 - Bin-bin Chen
A1 - Zhao-hui Sun
A1 - Li-ping Wu
A1 - Su-juan Zhao
A1 - Qi Miao
A1 - Xia-jing Tang
J0 - Journal of Zhejiang University Science B
VL - 14
IS - 6
SP - 479
EP - 486
%@ 1673-1581
Y1 - 2013
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1200259


Abstract: 
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 consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products. Results: We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.782G>C (p.R261G) in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls. Conclusions: 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.

An erratum to this article can be found at doi:10.1631/jzus.B12e0259

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

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