PDF(Pubmed)
Abstract：
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)/c.124 C > T (p.Arg42*) heterozygous compound. The p.Arg42* nonsense mutation was also found in heterozygosity in his sister and niece, both suffering from psychiatric disorders. The p.Arg42* nonsense mutation has never been found in WS1 and its pathogenicity is unclear so far. Our study underlined the need to study a greater number of WS1 cases in order to better understand the clinical significance of many WFS1 variants.
摘要：
Wolfram综合征1，一种罕见的常染色体隐性遗传神经退行性疾病，是由WFS1基因突变引起的.它的特点是尿崩症，糖尿病,视神经萎缩,和耳聋（DIDMOAD），和其他临床表现，如泌尿系统和神经系统疾病。在这里，我们描述了一个没有DI的非典型迟发性Wolfram综合征1患者的病例。我们的WS1患者为c.1620_1622delGTG（p。Trp540del）/c.124C>T（p。Arg42*)杂合化合物。在他的妹妹和侄女的杂合性中也发现了p.Arg42*无义突变，都患有精神疾病。在WS1中从未发现p.Arg42*无义突变，迄今为止其致病性尚不清楚。我们的研究强调需要研究更多的WS1病例，以便更好地了解许多WFS1变异的临床意义。
