Department of Nephrology, Changhai Hospital, Second Military Medical University, 168 Changhai Road, Shanghai, 200433, China.
Endocrine. 2010 Oct;38(2):147-52. doi: 10.1007/s12020-010-9350-4. Epub 2010 Oct 23.
Wolfram syndrome is a rare hereditary disease characterized by diabetes mellitus and optic atrophy. The outcome of this disease is always poor. WFS1 gene mutation is the main cause of this disease. A patient with diabetes mellitus, diabetes insipidus, renal tract disorder, psychiatric abnormality, and cataract was diagnosed with Wolfram syndrome. Mutations in open reading frame (ORF) of WFS1 gene was analyzed by sequencing. Mutations in WFS1 gene was also summarized by a systematic review in Pubmed and Chinese biological and medical database. Sequencing of WFS1 gene in this patient showed a new mutation, 1962G>A, and two other non-sense mutations, 2433A>G and 2565G>A. Systematic review included 219 patients in total and identified 172 WFS1 gene mutations, most of which were located in Exon 8. These mutations in WFS1 gene might be useful in prenatal diagnosis of Wolfram syndrome.
沃尔夫拉明综合征是一种罕见的遗传性疾病，其特征为糖尿病和视神经萎缩。这种疾病的预后通常较差。WFS1 基因突变是该病的主要病因。一位患有糖尿病、尿崩症、尿路紊乱、精神异常和白内障的患者被诊断为沃尔夫拉明综合征。通过测序分析 WFS1 基因开放阅读框（ORF）的突变。通过在 Pubmed 和中国生物医学数据库中进行系统综述，总结 WFS1 基因突变。对该患者的 WFS1 基因进行测序，发现了一个新的突变，1962G>A，以及另外两个无义突变，2433A>G 和 2565G>A。系统综述共纳入 219 例患者，共发现 172 种 WFS1 基因突变，其中大多数位于外显子 8。这些 WFS1 基因突变可能有助于沃尔夫拉明综合征的产前诊断。
