A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation

被引：5
|
作者：
Lee, Byeonghyeon [1 ,2 ]
Choi, Deok-Gyun [1 ]
Chun, Bo Young [3 ]
Oh, Eun Hye [4 ]
Lee, Yun-Jeong [5 ]
Kim, Un-Kyung [1 ,2 ]
Park, Jin-Sung [6 ]
机构：
[1] Kyungpook Natl Univ, Coll Nat Sci, Dept Biol, Daegu 41566, South Korea
[2] Kyungpook Natl Univ, BK21 Plus KNU Creat BioRes Grp, Sch Life Sci, Daegu 41566, South Korea
[3] Kyungpook Natl Univ, Sch Med, Dept Opthalmol, Daegu 41944, South Korea
[4] Pusan Natl Univ, Yangsan Hosp, Pusan Natl Nuivers Sch Med, Dept Neurol, Yangsan 50612, South Korea
[5] Kyungpook Natl Univ Hosp, Dept Pediat Neurol, Daegu 41566, South Korea
[6] Kyungpook Natl Univ, Chilgok Hosp, Sch Med, Dept Neurol, Daegu 41404, South Korea
来源：
GENE | 2019年 / 705卷
基金：
新加坡国家研究基金会;
关键词：
PHENOTYPE;
D O I：
10.1016/j.gene.2019.04.035
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Congenital nystagmus (CN) is a heterogeneous disease that shows variable clinical features. There are a few mutations that are known to cause CN. Among them, a PAX6 mutation is known to cause CN with an extremely high frequency of aniridia. Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia. This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases.
引用
收藏
页码：177 / 180
页数：4
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