Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a Novel COL4A1 Mutation

被引：3
|
作者：
Grego, Lisa [1 ]
Pignatto, Silvia [1 ]
Rassu, Nicolo [1 ]
Passone, Eva [2 ]
Cogo, Paola [2 ]
Lanzetta, Paolo [1 ]
机构：
[1] Univ Udine, Dept Med Ophthalmol, Piazzale Santa Maria Misericordia 15, IT-33100 Udine, Italy
[2] Univ Udine, Dept Med Pediat, Udine, Italy
来源：
CASE REPORTS IN OPHTHALMOLOGY | 2019年 / 10卷 / 03期
关键词：
Corpus callosum agenesis; Optic nerve hypoplasia; Cataract; DISEASE;
D O I：
10.1159/000505017
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
We report the case of a girl with a novel mutation of the COL4A gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. COL4A1, located on chromosome 13, encodes the alpha 1 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Different mutations have been described and may remain asymptomatic or determine porencephaly, cerebral hemorrhages, renal cysts, hematuria, and dysgenesis of the anterior segment of the eye.
引用
收藏
页码：424 / 430
页数：7
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