先天性X连锁眼球震颤家系中的新型FRMD7基因内缺失
Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
作者信息
Fingert John H, Roos Ben, Eyestone Mari E, Pham Joshua D, Mellot Mei L, Stone Edwin
机构信息
Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
出版信息
Ophthalmic Genet. 2010 Jun;31(2):77-80. doi: 10.3109/13816810903584989.
OBJECTIVE
To identify the disease-causing mutation in a large 3 generation pedigree of X-linked congenital nystagmus.
METHODS
Twenty-three members of a single pedigree, including 7 affected males, 2 affected females, 5 obligate carriers, and 9 unaffected family members were tested for mutations in the FRMD7 gene using PCR-based DNA sequencing assays and multiplex PCR assays for deletions.
RESULTS
A hemizygous deletion of exons 2, 3, and 4 of FRMD7 was detected in all affected males in the family and was absent from 40 control subjects.
CONCLUSIONS
A range of missense, nonsense, frameshift, and splicing mutations in FRMD7 have been shown to cause X-linked congenital nystagmus. Here we show for the first time that large intragenic deletions of FRMD7 can also cause this form of nystagmus.
目的
在一个大型的X连锁先天性眼球震颤三代家系中鉴定致病突变。
方法
使用基于PCR的DNA测序分析和多重PCR分析缺失，对一个家系的23名成员进行检测，包括7名患病男性、2名患病女性、5名肯定携带者和9名未患病家庭成员，以检测FRMD7基因中的突变。
结果
在该家系所有患病男性中检测到FRMD7基因外显子2、3和4的半合子缺失，40名对照受试者中未检测到该缺失。
结论
已表明FRMD7基因中的一系列错义、无义、移码和剪接突变可导致X连锁先天性眼球震颤。在此我们首次表明，FRMD7基因的大片段基因内缺失也可导致这种形式的眼球震颤。
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