Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis

被引:62
作者
Betz, R
Rensing, C
Otto, E
Mincheva, A
Zehnder, D
Lichter, P
Hildebrandt, F
机构
[1] Univ Freiburg, Univ Childrens Hosp, D-79106 Freiburg, Germany
[2] Deutsch Krebsforschungszentrum, D-6900 Heidelberg, Germany
[3] Kantonsspital, Innere Med Abt, Bern, Switzerland
关键词
D O I
10.1067/mpd.2000.106225
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Congenital ocular motor apraxia type Cogan is characterized by impairment of horizontal voluntary eye movements, ocular attraction movements, and optokinetic nystagmus. Two patients with congenital ocular motor apraxia type Cogan exhibited a newly recognized association with nephronophthisis type 1, an autosomal recessive kidney disease. Both patients possess large deletions of the NPHP1 gene. The deletion occurred on both chromosomes 2q13 in one patient and heterozygously in combination with a point mutation of the NPHP1 gene in the other. The findings will help to elucidate the pathogenetic processes involved.
引用
收藏
页码:828 / 831
页数:4
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