Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis
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DOI：
10.1016/s0022-3476(00)01001-5
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发表时间：
2000-06-01
影响因子：
5.1
通讯作者：
Hildebrandt, F
中科院分区：
文献类型：
--
作者：
Betz, R;Rensing, C;Hildebrandt, F
Cogan型先天性眼球运动性失用症的特征是水平随意眼球运动、眼球吸引运动和视动性眼球震颤受损。两名先天性眼运动性失用型Cogan患者表现出一种新认识的与1型肾单位萎缩症（一种常染色体隐性遗传性肾病）的相关性。这两名患者都有NPHP1基因的大缺失。一名患者的两条染色体2q13上都发生了缺失，另一名患者则与NPHP1基因的点突变相结合。这些发现将有助于阐明所涉及的发病过程。
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.