Abstract：
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. We summarize current literature, define the clinical characteristics, and investigate potential genotype phenotype correlations. A systematic literature search was conducted in electronic databases Pubmed/MEDLINE, EMBACE, and Cochrane Library. We included studies reporting patients with a clinical picture consisting at least 2 typical clinical manifestations of WSF1 disorders and heterozygous mutations in WFS1. In total, 86 patients from 35 studies were included. The most common phenotype consisted of the combination of optic atrophy (87%) and hearing impairment (94%). Diabetes mellitus was seen in 44% of the patients. Nineteen percent developed cataract. Patients with missense mutations in WFS1 had a lower number of clinical manifestations, less chance of developing diabetes insipidus, but a younger age at onset of hearing impairment compared to patients with nonsense mutations or deletions causing frameshift. There were no studies reporting decreased life expectancy. This review shows that, within the spectrum of WFS1-associated disorders or \"wolframinopathies,\" autosomal dominantly inherited WFLS has a relatively mild phenotype compared to autosomal recessive WS. The clinical manifestations and their age at onset are associated with the specific underlying mutations in the WFS1 gene.
摘要：
Wolfram样综合征（WFLS）是一种最近描述的常染色体显性遗传病，其表型与常染色体隐性Wolfram综合征（WS）相似，包括视神经萎缩,听力障碍,和糖尿病。我们总结当前的文献，定义临床特征，并调查潜在的基因型表型相关性。在电子数据库Pubmed/MEDLINE中进行了系统的文献检索，EMBACE和Cochrane图书馆。我们纳入的研究报告患者的临床表现包括WSF1疾病和WFS1杂合突变的至少两种典型临床表现。总的来说,纳入了来自35项研究的86名患者。最常见的表型包括视神经萎缩（87％）和听力障碍（94％）。44％的患者出现糖尿病。百分之十九患有白内障。WFS1错义突变患者的临床表现较少，患尿崩症的机会较少，但与无意义突变或缺失导致移码的患者相比，听力障碍的发病年龄更小。没有研究报告预期寿命下降。这篇综述表明,在与WFS1相关的疾病或“wolframinopathies”的范围内，与常染色体隐性遗传WS相比，常染色体显性遗传WFLS具有相对温和的表型。临床表现及其发病年龄与WFS1基因的特定潜在突变有关。
