Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene

被引：20

作者：

Kondo, Hiroyuki ^{[1
]}

Qin, Minghui ^{[2
]}

Tahira, Tomoko ^{[2
]}

Uchio, Eiichi ^{[1
]}

Hayashi, Kenshi ^{[2
]}

机构：

[1] Fukuoka Univ, Sch Med, Dept Ophthalmol, Fukuoka 8140181, Japan

[2] Kyushu Univ, Med Inst Bioregulat, Res Ctr Genet Informat, Div Genome Anal, Fukuoka 812, Japan

来源：

OPHTHALMIC GENETICS | 2007年 / 28卷 / 04期

关键词：

familial exudative vitreoretinopathy; FEVR; frizzled-4; FZD4; falciform retinal fold;

D O I：

10.1080/13816810701663543

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: To report the clinical features of a patient with familial exudative vitreoretinopathy (FEVR) associated with homozygous R417Q mutation in the frizzled-4 gene (FZD4). Methods: Clinical examination and mutation analysis by direct sequencing. Results: A five-month-old girl was found to have leukocoria associated with retrolental fibroplasia in the right eye and a severe falciform retinal fold in the left eye. Mutational analysis revealed a homozygous R417Q mutation in the FZD4 gene. Her parents who carried the same mutation heterozygously exhibited milder ocular phenotype. Conclusions: Homozygous state for the FZD4 gene is possibly involved in the severity of the FEVR phenotype.

引用

页码：220 / 223

页数：4

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