X连锁先天性运动性眼球震颤中FRMD7基因的新突变。

Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

作者信息

Zhang Baorong, Liu Zhirong, Zhao Guohua, Xie Xin, Yin Xinzhen, Hu Zhengmao, Xu Shanhu, Li Qian, Song Fei, Tian Jun, Luo Wei, Ding Meiping, Yin Jinfu, Xia Kun, Xia Jiahui

机构信息

Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.

出版信息

Mol Vis. 2007 Sep 13;13:1674-9.

PMID:17893669

Abstract

PURPOSE

Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations. Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN.

METHODS

Clinical data and genomic DNA of three Chinese CMN families were collected after informed consent. Genescan by two-point linkage analysis combined with haplotype analysis was performed and mutation screening of the FRMD7 gene was conducted by direct sequencing.

RESULTS

Maximum two-point LOD scores of 2.00, 1.76, and 1.16 at theta=0.00 were obtained with markers in proximity to the FRMD7 gene on chromosome Xp26 in the three CMN families. Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T). These nucleotide alterations were not seen in unaffected members of the families or in 100 unrelated control subjects.

CONCLUSIONS

This study widens the mutation spectrum of the FRMD7 gene.

摘要

目的

先天性运动性眼球震颤（CMN）是一种相对常见的眼球运动障碍，其特征为双侧无法控制的眼球振荡。最近，已确定FRMD7基因突变是CMN的遗传病因。本研究的目的是鉴定中国CMN患者中FRMD7基因的突变。

方法

在获得知情同意后，收集了三个中国CMN家系的临床资料和基因组DNA。通过两点连锁分析结合单倍型分析进行基因扫描，并通过直接测序对FRMD7基因进行突变筛查。

结果

在三个CMN家系中，在Xp26染色体上与FRMD7基因邻近的标记处，在θ=0.00时获得的最大两点LOD分数分别为2.00、1.76和1.16。对FRMD7基因的突变筛查鉴定出两个新的错义突变（c.781C>G和c.886G>C）和一个已报道的无义突变（c.1003C>T）。这些核苷酸改变在这些家系的未患病成员或100名无关对照受试者中均未发现。