Ozgül R K, Satman I, Collin G B, Hinman E G, Marshall J D, Kocaman O, Tütüncü Y, Yilmaz T, Naggert J K
Section of Nutrition and Metabolism, Department of Pediatrics, Institute of Child Health and Faculty of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.
Clin Genet. 2007 Oct;72(4):351-6. doi: 10.1111/j.1399-0004.2007.00848.x.
Alström syndrome is a rare, autosomal recessive disorder characterized by a wide spectrum of clinical features including early-onset retinal degeneration leading to blindness, sensorineural hearing loss, short stature, obesity, type 2 diabetes, hyperlipidemia and dilated cardiomyopathy. Renal, hepatic and pulmonary dysfunction may occur in the later phases of the disease. The three affected sisters, from a consanguineous Turkish family, with the characteristic features of Alström syndrome, were clinically diagnosed in 1987 and followed for 20 years. DNA sequence analysis of ALMS1, the causative gene in Alström syndrome, identified a novel homozygous disease-causing mutation, c.8164C>T, resulting in a premature termination codon in exon 10 in each of the three affected sisters. Furthermore, we describe the longitudinal disease progression in this family and report new clinical findings likely associated with Alström syndrome, such as pes planus and hyperthyroidism.
阿尔斯特伦综合征是一种罕见的常染色体隐性疾病，其临床特征广泛，包括早发性视网膜变性导致失明、感音神经性听力损失、身材矮小、肥胖、2型糖尿病、高脂血症和扩张型心肌病。在疾病后期可能会出现肾脏、肝脏和肺功能障碍。这三名患病姐妹来自一个近亲结婚的土耳其家庭，具有阿尔斯特伦综合征的特征性表现，于1987年被临床诊断，并随访了20年。对阿尔斯特伦综合征致病基因ALMS1进行DNA序列分析，在三名患病姐妹中均发现了一种新的纯合致病突变c.8164C>T，该突变导致第10外显子出现过早终止密码子。此外，我们描述了这个家族中疾病的纵向进展情况，并报告了可能与阿尔斯特伦综合征相关的新临床发现 ，如扁平足 和甲状腺功能亢进症。
