Nakamura Makoto, Ito Sei, Miyake Yozo
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Japan.
Am J Ophthalmol. 2002 Sep;134(3):465-7. doi: 10.1016/s0002-9394(02)01542-8.
To report a novel de novo mutation in the cone-rod homeobox (CRX) gene in a Japanese patient with Leber congenital amaurosis (LCA).
The CRX gene was analyzed by direct genomic sequencing in a patient with LCA and in his healthy parents. A complete ophthalmologic examination was performed on the family.
A heterozygotic deletion of G at nucleotid 520 in CRX, predicting a frameshift in codon 174 and a premature termination of translation [Ala174(1-bp del)], was identified in the proband. The mutation was not present in his unaffected parents.
A novel de novo mutation in CRX was found in a Japanese patient with LCA.
报告一名患有莱伯先天性黑矇（LCA）的日本患者中视锥-视杆同源框（CRX）基因的一种新型新生突变。
对一名LCA患者及其健康父母进行直接基因组测序分析CRX基因。对该家族进行了全面的眼科检查。
在先证者中鉴定出CRX基因第520位核苷酸处的G杂合缺失，预测密码子174发生移码并提前终止翻译[丙氨酸174（1-bp缺失）]。其未受影响的父母中不存在该突变。
在一名患有LCA的日本患者中发现了CRX基因的一种新型新生突变。
