PDF(Pubmed)
Abstract：
BACKGROUND: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life.
RESULTS: Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes.
CONCLUSIONS: The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease.
RESULTS: Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes.
CONCLUSIONS: The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease.
摘要：
背景：Wolfram综合征（WS）是一种罕见的常染色体隐性遗传多系统神经退行性疾病，其特征是非自身免疫性胰岛素依赖型糖尿病，视神经萎缩,感觉神经性耳聋,以糖尿病为主要特征。由于临床表型异质性，误诊率高。然而,早期准确诊断和综合管理是提高生活质量和延长寿命的关键。
结果：来自7个WS家系的11名患者，具有10个突变位点（c.1314_1317delCTTT，c.C529T,c.C529A,c.G2105A,c.C1885T,c.1859_1860del,c.G2020A,c.C529A,c.G2105A,包括WFS1基因中的c.G1393C）。我们进行了进一步的专家部门分析，以明确诊断并分析基因与表型之间的相关性。
结论：这些患者的基因型与其表型密切相关。分析患者的临床资料,为该病的诊断和临床管理提供依据。
结果：来自7个WS家系的11名患者，具有10个突变位点（c.1314_1317delCTTT，c.C529T,c.C529A,c.G2105A,c.C1885T,c.1859_1860del,c.G2020A,c.C529A,c.G2105A,包括WFS1基因中的c.G1393C）。我们进行了进一步的专家部门分析，以明确诊断并分析基因与表型之间的相关性。
结论：这些患者的基因型与其表型密切相关。分析患者的临床资料,为该病的诊断和临床管理提供依据。
