Wada Yuko, Tada Asako, Itabashi Toshitaka, Kawamura Miyuki, Sato Hajime, Tamai Makoto
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
Am J Ophthalmol. 2005 Jul;140(1):163-5. doi: 10.1016/j.ajo.2005.01.017.
To determine the presence and frequency of mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa (ADRP), and to characterize the clinical characteristics of patients with the Lys238Arg mutation in the IMPDH1 gene.
Case reports and results of DNA analysis.
All 14 coding exons of the IMPDH1 gene were directly sequenced in 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, and kinetic visual field tests.
Two novel mutations, a Leu227Pro and Lys238Arg, in the IMPDH1 gene were identified in two unrelated families with ADRP. The clinical features associated with the Lys238Arg mutation were an early-onset and severe retinal degeneration.
The most commonly reported Asp226Asn mutation was not found in the Japanese population, instead two novel mutations were found. These findings suggest that mutations of the IMPDH1 gene cause ADRP in the Japanese population.
确定日本常染色体显性遗传性视网膜色素变性（ADRP）患者中IMPDH1基因突变的存在情况及频率，并描述IMPDH1基因Lys238Arg突变患者的临床特征。
病例报告及DNA分析结果。
对96例无亲缘关系的ADRP患者的IMPDH1基因的全部14个编码外显子进行直接测序。通过视力、裂隙灯显微镜检查和动态视野测试确定临床特征。
在两个无亲缘关系的ADRP家族中鉴定出IMPDH1基因的两个新突变，即Leu227Pro和Lys238Arg。与Lys238Arg突变相关的临床特征为早发性和严重的视网膜变性。
在日本人群中未发现最常报道的Asp226Asn突变，而是发现了两个新突变。这些发现表明IMPDH1基因突变导致日本人群中的ADRP。
