Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Am J Med Genet A. 2010 Mar;152A(3):653-6. doi: 10.1002/ajmg.a.33300.
Williams-Beuren syndrome (WBS) is caused by a submicroscopic deletion on chromosome 7q11.23 that encompasses the entire elastin (ELN) gene. Elastin, a key component of elastic fibers within the lung, is progressively destroyed in emphysema. Defects in the elastin gene have been associated with increased susceptibility towards developing chronic obstructive pulmonary disease (COPD) and emphysema in both humans and mice. We postulate that hemizygosity at the elastin gene locus may increase susceptibility towards the development of COPD and emphysema in subjects with WBS. We describe an adult subject with WBS who was a lifelong non-smoker and was found to have moderate emphysema. We also examined the pulmonary function of a separate cohort of adolescents and young adults with WBS. Although no significant spirometric abnormalities were identified, a significant proportion of subjects reported respiratory symptoms. Thus, while significant obstructive disease does not appear to be common in relatively young adults with WBS, subclinical emphysema and lung disease may exist which possibly could worsen with advancing age. Further investigation may elucidate the pathogenesis of non-smoking-related emphysema.
威廉姆斯-比伦综合征（WBS）是由染色体 7q11.23 上的亚微缺失引起的，该缺失包括整个弹性蛋白（ELN）基因。弹性蛋白是肺内弹性纤维的主要成分，在肺气肿中逐渐被破坏。弹性蛋白基因的缺陷与人类和小鼠慢性阻塞性肺疾病（COPD）和肺气肿的易感性增加有关。我们假设弹性蛋白基因座的半合子性可能会增加 WBS 患者发生 COPD 和肺气肿的易感性。我们描述了一位患有 WBS 的成年患者，他终生不吸烟，被发现患有中度肺气肿。我们还检查了另一组患有 WBS 的青少年和年轻人的肺功能。尽管没有发现明显的肺功能障碍，但有相当一部分患者报告有呼吸道症状。因此，虽然在相对年轻的 WBS 成年患者中似乎没有明显的阻塞性疾病，但可能存在亚临床肺气肿和肺部疾病，随着年龄的增长可能会恶化。进一步的研究可能会阐明非吸烟相关性肺气肿的发病机制。
